Upper motor neurons convey impulses for voluntary motor activity and exert control over lower motor neurons. Lower motor neurons directly innervate skeletal muscle. In ALS, both upper and lower motor neurons are affected, leading to weakness, spasticity, hyperreflexia and muscle atrophy. The disease involves degeneration of motor neurons in the brain and spinal cord. ALS is a fatal neurodegenerative disease with no known cure, though riluzole can modestly prolong survival.
Motor neuron diseases are a group of neurodegenerative disorders that affect motor neurons in the brain and spinal cord. The presentation and progression of symptoms varies depending on whether upper motor neurons, lower motor neurons, or both are affected. Amyotrophic lateral sclerosis (ALS) is the most common type of motor neuron disease in adults and causes progressive weakness and atrophy as motor neurons degenerate. While there is no cure for motor neuron diseases, treatment focuses on managing symptoms and maximizing quality of life.
Upper motor neurons convey impulses for voluntary motor activity and exert control over lower motor neurons, which directly innervate skeletal muscle. Upper motor neuron cell bodies are located in the motor cortex and premotor areas. Their axons form tracts that project to lower motor neurons in the brainstem and spinal cord. Lower motor neuron cell bodies are located in the brainstem and spinal cord. Damage to upper motor neurons results in spasticity and hyperreflexia, while lower motor neuron damage causes weakness, atrophy, fasciculations and hyporeflexia. Amyotrophic lateral sclerosis is a motor neuron disorder characterized by both upper and lower motor neuron degeneration.
This document discusses the approach to evaluating and diagnosing myelopathy. It begins by defining myelopathy as spinal cord, meningeal, or perimeningeal damage or dysfunction. It then lists signs that strongly indicate or are consistent with but not diagnostic of myelopathy. Alternative diagnoses are also discussed. Common causes of acute myelopathy are then summarized, including multiple sclerosis, spinal cord infarction, and transverse myelitis. Features suggesting infectious etiology and patterns of spinal cord involvement are outlined. The document concludes by discussing compressive myelopathies and pearls for localizing spinal cord lesions.
Motor neurons are neurons that control muscles and glands. Their cell bodies are located in the brainstem or spinal cord, and their axons project to muscles. Motor neuron disease (MND) refers to conditions where motor neurons degenerate, leading to muscle weakness and atrophy. The most common type is amyotrophic lateral sclerosis (ALS), where both upper and lower motor neurons are affected. In ALS, muscles weaken and waste away as motor neurons die, and symptoms may include limb weakness, bulbar problems like slurred speech, and respiratory issues. The disease progresses as motor neurons continue to deteriorate over time.
This document discusses progressive myoclonus epilepsy (PME), which consists of myoclonic seizures, tonic-clonic seizures, and progressive neurological dysfunction like ataxia and dementia. The main causes of PME include Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fiber syndrome, Lafora body disease, neuronal ceroid lipofuscinoses, and sialidoses. Each of these disorders is described in detail, outlining their characteristic symptoms, age of onset, genetic basis, diagnostic criteria, management approaches, and other relevant clinical information. Rare causes of PME like dentatorubral-pallidoluysian atrophy and non
The document discusses progressive myoclonus epilepsy (PME), which consists of myoclonic seizures, tonic-clonic seizures, and progressive neurological dysfunction like ataxia and dementia. The main causes of PME include Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fiber syndrome, Lafora body disease, neuronal ceroid lipofuscinoses, and sialidoses. Lafora body disease is characterized by myoclonus, seizures, ataxia, dementia and inclusion bodies. It has autosomal recessive inheritance and death usually occurs within 10 years of onset. Management involves treatment of seizures and myoclonus with medications like
Amyotrophic lateral sclerosis (ALS) is a rare neurological disease that primarily affects the nerve cells (neurons) responsible for controlling voluntary muscle movement (those muscles we choose to move). Voluntary muscles produce movements like chewing, walking, and talking.
Motor neuron diseases are a group of neurodegenerative disorders that affect motor neurons in the brain and spinal cord. The presentation and progression of symptoms varies depending on whether upper motor neurons, lower motor neurons, or both are affected. Amyotrophic lateral sclerosis (ALS) is the most common type of motor neuron disease in adults and causes progressive weakness and atrophy as motor neurons degenerate. While there is no cure for motor neuron diseases, treatment focuses on managing symptoms and maximizing quality of life.
Upper motor neurons convey impulses for voluntary motor activity and exert control over lower motor neurons, which directly innervate skeletal muscle. Upper motor neuron cell bodies are located in the motor cortex and premotor areas. Their axons form tracts that project to lower motor neurons in the brainstem and spinal cord. Lower motor neuron cell bodies are located in the brainstem and spinal cord. Damage to upper motor neurons results in spasticity and hyperreflexia, while lower motor neuron damage causes weakness, atrophy, fasciculations and hyporeflexia. Amyotrophic lateral sclerosis is a motor neuron disorder characterized by both upper and lower motor neuron degeneration.
This document discusses the approach to evaluating and diagnosing myelopathy. It begins by defining myelopathy as spinal cord, meningeal, or perimeningeal damage or dysfunction. It then lists signs that strongly indicate or are consistent with but not diagnostic of myelopathy. Alternative diagnoses are also discussed. Common causes of acute myelopathy are then summarized, including multiple sclerosis, spinal cord infarction, and transverse myelitis. Features suggesting infectious etiology and patterns of spinal cord involvement are outlined. The document concludes by discussing compressive myelopathies and pearls for localizing spinal cord lesions.
Motor neurons are neurons that control muscles and glands. Their cell bodies are located in the brainstem or spinal cord, and their axons project to muscles. Motor neuron disease (MND) refers to conditions where motor neurons degenerate, leading to muscle weakness and atrophy. The most common type is amyotrophic lateral sclerosis (ALS), where both upper and lower motor neurons are affected. In ALS, muscles weaken and waste away as motor neurons die, and symptoms may include limb weakness, bulbar problems like slurred speech, and respiratory issues. The disease progresses as motor neurons continue to deteriorate over time.
This document discusses progressive myoclonus epilepsy (PME), which consists of myoclonic seizures, tonic-clonic seizures, and progressive neurological dysfunction like ataxia and dementia. The main causes of PME include Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fiber syndrome, Lafora body disease, neuronal ceroid lipofuscinoses, and sialidoses. Each of these disorders is described in detail, outlining their characteristic symptoms, age of onset, genetic basis, diagnostic criteria, management approaches, and other relevant clinical information. Rare causes of PME like dentatorubral-pallidoluysian atrophy and non
The document discusses progressive myoclonus epilepsy (PME), which consists of myoclonic seizures, tonic-clonic seizures, and progressive neurological dysfunction like ataxia and dementia. The main causes of PME include Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fiber syndrome, Lafora body disease, neuronal ceroid lipofuscinoses, and sialidoses. Lafora body disease is characterized by myoclonus, seizures, ataxia, dementia and inclusion bodies. It has autosomal recessive inheritance and death usually occurs within 10 years of onset. Management involves treatment of seizures and myoclonus with medications like
Amyotrophic lateral sclerosis (ALS) is a rare neurological disease that primarily affects the nerve cells (neurons) responsible for controlling voluntary muscle movement (those muscles we choose to move). Voluntary muscles produce movements like chewing, walking, and talking.
This document discusses the differential diagnosis and clinical presentation of acute flaccid paralysis. It covers various central nervous system, peripheral nerve, neuromuscular junction, and muscle disorders that can cause acute flaccid paralysis. Specific conditions discussed in detail include transverse myelitis, Guillain-Barré syndrome, myasthenia gravis, spinal muscular atrophy, and poliomyelitis. The document also provides information on the genetic testing, clinical classification, and typical features of spinal muscular atrophy.
1. Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive motor neuron disease that affects both upper and lower motor neurons.
2. ALS is defined by evidence of both lower motor neuron degeneration causing weakness, wasting, and fasciculations and upper motor neuron involvement shown by spasticity and increased reflexes.
3. Riluzole is the only FDA-approved drug shown to modestly slow disease progression in ALS patients, extending survival by a few months. Edaravone was also approved in 2017 as an antioxidant therapy.
ALS is a neurodegenerative disease that affects motor neurons in the brain and spinal cord. It causes progressive muscle weakness and atrophy. There is currently no cure, and the average survival time is 3-5 years from symptom onset. Riluzole is the only approved treatment shown to modestly prolong survival. Supportive care focuses on managing symptoms like spasticity, secretions, and respiratory failure to prolong function and quality of life. The ice bucket challenge raised significant funds for ALS research. Diagnosis requires ruling out other causes and demonstrating both upper and lower motor neuron signs that progress over time.
This gives an overall idea and knowledge about epilepsy and epileptogenesis. This does not serve as a complete medical tool,but as a learning material for, health and allied health students.
Epilepsy is a fascinating disease and cannot be understood in a single ppt, this just gives out and outline on the definition, diagnostic tools, incidence, types, and a intro on treatment protocols medical and surgical
It is a great source of comprehensive knowledge on the topic and information on the treatment
APPROACH TO A PATIENT PRESENTING WITH LIMB WEAKNESSPituaIvaan1
This document provides an overview of how to approach a patient presenting with limb weakness. It discusses classifying the type of weakness, determining the etiology and risk factors, distinguishing features of upper motor neuron, lower motor neuron, neuromuscular junction, and myopathic weaknesses. It also covers the distribution of weakness, clinical examination, relevant investigations, and management considerations. The case presented involves a 39-year-old man with acute hemorrhagic stroke and hypertensive crisis presenting with right-sided hemiparesis.
This document discusses neurological examination and localization of lesions in the nervous system. It describes the steps in neurological diagnosis and provides information on localization of lesions at different levels of the neuraxis from the cortex to muscles. Key signs and symptoms are outlined for upper motor neuron and lower motor neuron lesions, as well as peripheral nerve disorders, neuromuscular junction disorders, and muscle disorders. Specific examination findings that help localize lesions in different parts of the brain, spinal cord, nerves, and neuromuscular junction are also summarized.
This document discusses non-5q spinal muscular atrophy (SMA). It begins by describing the upper motor neuron (UMN) and lower motor neuron (LMN) pathways. The majority of SMA cases are caused by mutations on chromosome 5q, but 4% are non-5q SMA. Non-5q SMA is clinically and genetically heterogeneous. Several causal genes have been identified for different subtypes. The document then describes the clinical features and inheritance patterns of several rare non-5q SMA subtypes. Advanced genetic testing techniques like next-generation sequencing have helped identify more causal genes but also increased heterogeneity. Management involves symptom management while future challenges include determining pathogenicity of variants and developing accurate models.
This document discusses various types and causes of neuropathies, including focal (mononeuropathy), multifocal (mononeuropathy multiplex), and generalized (polyneuropathy) neuropathies. Common causes include entrapment neuropathies, diabetes, vitamin deficiencies, toxins/drugs, and systemic diseases. Specific conditions discussed include Bell's palsy, trigeminal neuralgia, and hemifacial spasm. Diagnostic testing and management strategies are also outlined.
1) Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons, leading to progressive muscle weakness.
2) The document discusses signs and symptoms, classifications, pathophysiology, diagnostic criteria, and multidisciplinary treatment of ALS including respiratory support, nutrition management, physical therapy, and the only FDA-approved medication Riluzole.
3) Respiratory failure is usually the ultimate cause of death in ALS patients, so respiratory care including non-invasive ventilation is an important part of treatment to prolong survival and quality of life.
This document provides an overview of ataxia, including its definition, causes, clinical features, classifications, hereditary forms, and spinocerebellar ataxia (SCA). Key points include: Ataxia is caused by dysfunction of the cerebellum and its pathways, resulting in loss of coordination. Common clinical features are gait and limb ataxia, dysarthria, and gaze abnormalities. Causes include genetic, paraneoplastic, infectious, autoimmune, and others. Hereditary forms include autosomal dominant and recessive SCAs, Friedreich's ataxia, and more. SCA is the most common hereditary ataxia and subtypes are distinguished by their clinical
This document summarizes recent advances in the diagnosis and genetic causes of cerebellar ataxia. It discusses how neuroimaging can identify patterns of cerebellar atrophy associated with different forms of ataxia. Genetic testing for autosomal dominant spinocerebellar ataxias and autosomal recessive cerebellar ataxias is important to establish a diagnosis. The mechanisms of various genetic mutations that cause spinocerebellar ataxia are described, including polyglutamine expansions and intronic repeat expansions.
This document provides an overview of neuropathies including:
1. It discusses the anatomy of the central and peripheral nervous systems and describes the components and functions of nerves.
2. Several types of neuropathies are defined including mononeuropathy, mononeuritis multiplex, radiculopathy, and polyneuropathy. Common causes, clinical presentations, and diagnostic approaches are described for various neuropathies.
3. Specific neuropathies like Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, Charcot-Marie-Tooth disease, and carpal tunnel syndrome are explained in more detail.
The document discusses motor neuron disease (MND), also known as amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease. It provides definitions, classifications, clinical features and patterns of MND. It describes the pathology, investigations, diagnostic criteria and management of ALS, the most common form of MND. It also discusses other types of MND like progressive muscular atrophy (PMA), progressive bulbar paralysis, and primary lateral sclerosis. Traditional Ayurvedic correlations for MND are also provided.
This document discusses the motor nervous system and motor paralysis from multiple levels including:
- The motor cortex and its connections to other brain areas
- The extrapyramidal and pyramidal systems
- Different types of apraxia and their lesion locations
- Lesions of the brainstem, spinal cord, nerves and muscles that can cause hemiplegia, monoplegia, or paraplegia
- The clinical features and localization of upper and lower motor neuron lesions
- Specific motor syndromes and their etiologies
It provides an overview of the organization of the motor system and localization of lesions throughout the nervous system that can result in different clinical motor deficits.
Hereditary neuropathies are a diverse group of inherited conditions affecting the peripheral nervous system. They are frequently underdiagnosed due to their indolent onset over decades and lack of clear family history in some cases. Charcot-Marie-Tooth disease is the most common inherited neuropathy, with two main types - CMT1 characterized by demyelination and CMT2 characterized by axonal loss. CMT1 results from mutations affecting myelin protein zero or peripheral myelin protein 22 genes, causing demyelination and onion bulb formation. Accurate diagnosis relies on detailed family history, neurological examination, and electrodiagnostic testing to distinguish inherited from acquired neuropathies.
Peripheral neuropathy can be classified based on the number and distribution of affected nerves, type of nerve fiber involved, and cause. Giant axonal neuropathy is a rare genetic disorder characterized by abnormal intermediate filament organization in axons, leading to focal axonal enlargements. It presents in childhood with signs of central and peripheral nervous system involvement such as cerebellar ataxia, muscle weakness, and loss of sensation. Diagnosis involves nerve biopsy and genetic testing. Management focuses on preventing complications and optimizing development, though most patients become wheelchair-bound by their teens and deceased by their 20s.
Genetic disorders of bone can be inherited, caused by spontaneous mutations, or result from exposure to toxins. They involve alterations in the transcription or processing of skeletal structural molecules or defects in signaling pathways. Common types include achondroplasia (the most common form of dwarfism), hypochondroplasia, spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, cleidocranial dysplasia, osteogenesis imperfecta, and osteopetrosis. Evaluation involves assessing clinical features, family history, and radiographs. Prenatal diagnosis is now popular using ultrasound to detect skeletal abnormalities in the second trimester. Management focuses on treating complications orthoped
A motor unit consists of a single motor neuron and the muscle fibers it innervates. The number of muscle fibers in a motor unit varies between different muscles, from 3-6 fibers in small muscles like those controlling eye movement, to around 600 fibers in larger leg muscles. Motor units are classified as slow, fast-resistant, or fast-fatigable based on the type and duration of contraction of the muscle fibers they innervate. In amyotrophic lateral sclerosis (ALS), there is a progressive degeneration and death of both upper and lower motor neurons, leading to muscle weakness, atrophy, and eventual paralysis.
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1. Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive motor neuron disease that affects both upper and lower motor neurons.
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This document provides an overview of how to approach a patient presenting with limb weakness. It discusses classifying the type of weakness, determining the etiology and risk factors, distinguishing features of upper motor neuron, lower motor neuron, neuromuscular junction, and myopathic weaknesses. It also covers the distribution of weakness, clinical examination, relevant investigations, and management considerations. The case presented involves a 39-year-old man with acute hemorrhagic stroke and hypertensive crisis presenting with right-sided hemiparesis.
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2. ⚫Upper motor neurons (UMN) are responsible for
conveying impulses forvoluntary motoractivity
⚫UMN send fibers to the LMN, and thatexertdirector
indirect supranuclearcontrol overthe LMN.
⚫Lowermotor neurons (LMN) directly innervate the
skeletal muscle
3. Motorcortex: the UMNs are located in the primary motor
cortex, Brodmann’sarea 4, and the premotorareas, Brodmann’sarea 6
(secondary motorcomplex and premotorcomplex).
Betz’s giant pyramidal neurons are the distinct group of neurons in layer 5
and other smaller neurons initiate the contraction of the small groups of the
skeletal musclesand control the forceand contraction.
4.
5. ⚫Axons from thecortical areas form thecorticospinal and
corticobulbar tracts.
⚫1/3 from primary motorcortex (Betz’s cell axons -3-
5%, and other 95% from small neurons)
⚫1/3 from Brodmann’sarea 6
⚫1/3 from the somatic sensory cortex (areas 1, 2, and
3), and adjacent temporal lobe region.
6. •Thecorticobulbar tract projects bilaterally to CNs
V
, VII, IX, X and XII.
•Thecorticospinal tractdecussates (75-90%) in the
lower medulla and forms the lateral corticospinal
tract. The remaining fibers form the ventral
corticospinal tract.
•Thesecorticospinal axons providedirectand strong
glutamatergic excitatory input to alpha
motorneurons.
7. •Basal gangliaand cerebellum-No direct input to the LMNs and
thusare NOT considered partof the UMNs.
•Basal Ganglia modulates
•Higherorder functions,
•Cognitiveaspect of motorcontrol,
•Planning and execution of complex motor strategies.
•Thecerebellum regulates mechanical execution of movements
because it receives input from the sensorimotor cortex and the
spinal cord.
8. •Loss of dexterity
•Stiffness, slowness, and clumsiness, in particular, rapid
repetitive motions.
•Weakness is mild.
•Spasticity is hallmark of the UMN disease
•Pathological hyperreflexia.
•Pseudobulbarpalsy is hallmark of the UMN
disorder, which is characterized by sudden unmotivated
crying or laughing
9. ⚫ The LMNs -Located in the brainstemand spinal cord
⚫ The spinal LMNs are also known as anterior horn cell. The
neuronsareclustered in nuclei, forming longitudinal columns.
⚫ Dorsal anterior horncells -Innervatedistal muscles,
⚫ Ventral located cells- Proximal muscles,
⚫ Medially located neurons- Truncal and axial muscles.
⚫ Markedlyenlarged lateral partsof thecervical and lumbar (lower
thoracic) anterior horns innervatearm, hand, and leg muscles.
⚫ Largespinal cord LMNs arecalled alpha neurons.
11. ⚫Weakness: Reduction in overall muscles strength.
⚫Muscle atrophy and Hyporeflexia
⚫Muscle hypotonicityand flaccidity
⚫Fasciculations
⚫Muscle cramps
12. ⚫Importanttodifferentiate the terms MND and ALS from
the “Motor Neuron Disorders” which is used for a
heterogenousgroupof diseaseordisorders of neuronsof
varied etiology having in common the involvementof
UpperAND/OR Lower motor neuron systems.
⚫The Motor Neuron Disorders include
inflammmatory/immune disorders ,sporadic/familial
disorders and disorders of undetermined cause.
⚫ALS or MND is ONE of the Motor neuron disorders
14. Theses share a molecular and cellular pathology along
with intraneuronal inclusions.(ubiquitin-
immunoreactivityand TAR-DNAbinding protein-43)
⚫Sporadicand Familial ALS
⚫Primary lateral sclerosis
⚫Progressive pulbarpalsy
⚫Progressive muscularatrophy
⚫JuvenileALS
⚫Western Pacific ALS
⚫Madras variant MND
15.
16. JeanMartin Charcot
⚫Named by Jean Martin Charcot in 19th century
⚫Also known as Lou Gehrig’s diseaseafterthe famous baseball
playerdiagnosed of ALS in 1930.
⚫Degeneration of the motor neuron(UMN & LMN) in motor
cortex,brainstem & spinal cord.
⚫Amyotrophy-Atrophyof muscle fibres consequentof
denervation due toanterior horn cell degeneration
⚫Lateral sclerosis-Sclerosis of the anterior and lateral
corticospinal tractswhich are replaced by progressivegliosis.
17.
18. ⚫Epidemiology: Incidence - 1 to 2.7/lakh
⚫ Prevalence-2.7 to 7.4/lakh
⚫ Sex predisposition-M>F(2:1 to 7:1)
(*F>M in bulbar onset ALS)
⚫ Age-Risk increaseswith age up to 74 years
⚫ Geographical distribution-In regions like
Chamorro peopleof Guam and Kii penninsulaof
Japan.
19. • Cases from India with distinct features-
Madrasvariant MND
• Peak onset-sixth toseventh decade(one
to twodecades earlier in India)
• 20%- live for 5 &
10%-Live for 10 yrs
(Indian data suggests longer median
survival time may be due toearlieronset)
20. ⚫ Undetermined aetiology.
⚫ Complex genetic-environmental interaction for neuronal degenration.
⚫ 90-95% aresporadic.
⚫ Proposed hypothesis of degeneration isviral infection,immune
activation & hormonal dysfunctions.
⚫ Sporadic ALS with predominantlyautosomal dominant inheritance
⚫ Molecularpathway proposed aredue toexcitotoxicity,oxidative
stress,mitochondrial dysfunction,impaired axonal
transport,neurafilamentaggregation.
⚫ Geneticsusceptibility include APOE,SMN,peripherin,VEGF,paraoxonase
genealteration
21. ⚫ Western Pacific ALS(ALS parkinsonism dementia complex)-
Exposure to toxin β-N-methylamino-l-alanine, which is present in
seeds of theCycas circinalis in people of Chamorro natives of
Guam & Kii Peninsula of Japan.
⚫ Familial ALS(FALS)-(Type 1-10)(Type 2 & 5 have AR,rest have AD
inheritance)
i)Cu/Zn superoxidedismutase 1 (SOD1) in 20% of FALS
cases(autosomal recessive inheritance)
ii)Expansions of a GGGGCC hexanucleotide repeat in a
noncoding region of chromosome 9 is present in 37% to 46% of
FALS and 6% to 20% of sporadicALS of European descent
iii)mutations in two RNA binding proteins, TAR DNA-binding
protein-43 (TDP-43) and fused in sarcoma (FUS)
22. ⚫ 2/3rd -Typical/Spinal form of ALS with focal motorweakness
of distal or proximal upperor lower limbs. Spread of weaknes to
contiguous muscles in thesame region beforeanotherregion is
involved.
⚫ Pseudoneuriticpattern-Involvementof muscles in the
apparentdistribution of a peripheral nerve
⚫ Monomelic-Involvementof one limb
⚫ Pseudopolyneuritic-Weakness in the both distal lower limbs
⚫ Mill’s Hemiplegicvariant-Weakness restricted toone half of
the body
⚫ Bulbar/pseudobulbar palsy
23. ⚫ 1-2% -Weakness of respiratorygroupof muscles
⚫ 10% - Bilateral upper limbweakness and wasting, flail arm of
flail person in barrel syndrome.
⚫ Head drop
⚫ Fasiculations-(Not the initial presenting symptom butalmost
seen in all patients at presentation)
⚫ Cramps-thighs,abdomen,back oreven tongue
⚫ Non motorsymptoms-Sleepdisturbance, Subtle cognitive
Dysfunctionand mood changes.
⚫Rarely involved: Bladder; bowels; Autonomic; Extraocular
movements; Sensory
24. ⚫ Morecommon in older females: 50% with bulbar
presentation
⚫ Bulbaronset in 20% to 30% of all ALS cases
⚫ Features
⚫ Dysarthria
⚫Speech rate: Slow
⚫Voice quality: Reduced
⚫ Dysphagia
•Coticobulbar tracts involvement
•Spasticdysarthria,dysphonia,dysphagia
•Emotional lability(forced crying or laughter)
•Brisk jaw jerk
•Hyperactivegag ref lex
26. ⚫Clinical examinationand electrophysiological
assesement.
⚫Differentiated from ALS mimickers-
⚫ Paraneoplastic
⚫ Hyperthyroidism
⚫ Parathormone dysfunction
⚫ Vit B12 Deficiency
⚫ HIV Infection(may presentwith flail arm syndrome)
⚫ Cervical spondylotic myelopathy(MRI helpful)
⚫ Myeloradiculopathy
⚫ Multiple Sclerosis
⚫ Craniovertebral Anomalies
27. ⚫NEUROIMAGING-
⚫MRI helps in excluding mimickers.
⚫Coronal T2WI shows bilateral symmetrical
hyperintensity along corticospinal tract (thin
white arrows) forming a 'WINE GLASS
APPEARANCE‘ or ‘GARLAND SIGN’
28. Coronal T2WI showing bilateral symmetrical hyperintensity along corticospinal tract
(thin whitearrows) forming a 'wineglassappearance'.
29. ⚫ELECTROPHYSIOLOGY-
⚫ Nerve Conduction Study-Normal in ALS except for low
amplitudeof compound muscleaction potential(CMAP)
which is due to wasting of muscles being
recorded.Sensory nerve conduction is normal
⚫ Electromyogram- signsof denervation include
fibrillations, positivesharp
waves,fasciculations, neurogenic units, and a neurogenic
pattern of recruitment.
30. ⚫Transcranial Magneticstimulation –Measures the
central central motorconductionand so the upper
motor neuron involvementcould be documented
#’SPLIT HAND’ Phenomenon-In cases of Severechanges
in the thenar eminence and the relative sparing of
hypothenareminence ,observed on the EMG study
⚫MotorUnit Number Estimation-Quantitative
assesmentof progressive motoraxon loss.
31. Definite ALS
⚫ Clinical orelectrophysiologicevidence of LMN *** and UMN signs in the bulbarregion
AND
⚫ At least two spinal regions or the presenceof LMN and UMN signs in threespinal
regions
ProbableALS
⚫ Clinical orelectrophysiologicevidence by LMN and UMN signs in at least two regions
with some UMN signs necessarily rostral to (above) the LMN signs
PossibleALS
⚫ Clinical orelectrophysiologicsignsof UMN and LMN dysfunction are in onlyone
region,
OR
⚫ UMN signs alone in twoor more regions,
OR
⚫ LMN signs rostral to UMN signs
(ALS mimics should beexcluded by EMG, appropriate neuroimaging, and clinical
laboratorystudies)
*** EMG evidence fordenervation hasequal value toclinical LMN signs; when there is
clinical suspicion for ALS, fasciculations have equivalent value to fibrillations and
positive waves in determining denervation
32. General: Hereditary vs Sporadic ALS
Feature
Hereditary ALS
Sporadic
ALS
Males:Females 1:1 1.7:1
Disease Duration
Bimodal
< 2 & > 5
years
Unimodal
3 to 4 years
Onset
Age distribution More younger More older
Mean age 46 years
56 to 63
years
Bulbar features 20% to 30% Unusual
Legs Common Occasional
33. ⚫Nocure is presentlyavailable for ALS,so the goal of
therapy is improving the quality of life.
⚫Riluzole(blocks TTX-sensitive sodium channels) is
the only medication that has been shown to be
effective in ALS
⚫50 mg twicea day, improves 1-yearsurvival byabout
15% and prolongs overall survival by 2 to 3 months
⚫Thecornerstones of symptomatic treatmentof ALS
include walking assists,management of respiratory
impairment, nutritional support, treatment of
sialorrhea,and palliativecare.
34. ⚫Early institution of noninvasive positive pressure
ventilation probably improves survival and slows the
rateof declineof the FVC.
⚫Spportive treatment
⚫ Spasticity(Baclofen/tizanidine),
⚫ Cramps(Vit B complex,CCB,levitriacetam),
⚫ Sialorrhoea(TCA,anticholinergics),
⚫ Depression(SSRIs/TCA)
⚫Diaphragm pacing has been used in selected patients
with ALS with moderately impaired respiratory function
and viable phrenic nervesand diaphragm
36. ⚫Presentation <25yrsof age
⚫Both LMN and UMN symptomsand sign
⚫Choreic movements,cerebellarataxiaand
mental retardation in the absence of
deafness
⚫Patientsdon’t have bulbar involvement till
late in thedisease
⚫Mutation in the ALSIN gene has been
recognised
38. ⚫Reported from South India.
⚫Casesare sporadic;Familial MMND appaers to be Aut.
Recessive
⚫Youngerage of onset(1st and 2nd decade)
⚫Wasting and weaknessof predominatelydistal musclesof
limbs
⚫Bulbardysfunction(IX & XII cranial nerve nuclei) and
facial muscle involvement
⚫Pyramidal dysfunction
⚫Sensorineural hearing loss
⚫Opticatrophy(if present,its named as Madras MND
variant)
39. ⚫ Majorityof patientswereadultsengaged in heavy manual work.
⚫ Strictly unilateral wasting of thewhole lower limb
⚫ The nerveconduction studies and the electromyographicpattern
suggested anterior horn cell disorder.
⚫ Neurogenicatrophy is seen in muscle biopsies
⚫ Suggested that possibly thesecases representan entity, clinically
differentfrom otheranterior horn cell disorders.
(*Prabhakar S, Chopra JS, Banerjee AK, Rana PV. Wasted leg syndrome: a clinical, electrophysiological
and histopathological study. Clin Neurol Neurosurg. 1981;83(1):19-28. PubMed PMID: 6273041.)
40. ⚫Hirayamadisease is also knownas juvenile muscular
atrophyof thedistal upperextremity
⚫Affects predominantly males in either their 2nd or
theirearly 3rd decadeof life
⚫Typical clinical features-Muscularweaknessand
atrophy in the hand and forearm
⚫Unilateral involvement in the majorityof patients, but
asymmetricand symmetric bilateral involvementare
alsoobserved .
⚫Since the brachioradialis muscle is spared, the pattern
of forearm involvement is also referred to as an oblique
amyotrophy.
41.
42. ⚫Primary Lateral sclerosis: adiagnosisof
exclusion
⚫Hereditary spastic paraplegia: AD disorder
⚫HTLV-1 associated myelopathy: X-linked
recessive inheritance, increased serum of very-
long-chain fatty acids
⚫Adrenomyeloneuropathy
⚫Lathyrism: history of consumption of
chickpeas
43. ⚫Diagnosisof exclusion
⚫Account for 2-4% of ALS
⚫Absenceof LMN Invovement
⚫Presentation in early 50’s
⚫Slowlyevolving spastic paresis after involving upper
limbs.
⚫Median diseaseduration:19yrs
⚫Fasiculation,cramps,bladderdysfunction,cognitive
deficits & abnormal voluntaryeye movement
⚫Striking loss of Betz cells in layer 5 of frontal and
prefrontal cortex with laminargliosis of layers 3 & 5 and
degeneration corticospinal tract
44. ⚫Also called familial spastic paraparesis or Strumpell-
Lorrain syndrome
⚫The common feature of this syndrome is
progressive, often severe, spasticity in the lower
extremities.
⚫Inheritance may be X-linked, autosomal recessive, or
autosomal dominant (70-85%)
⚫May occurat anyage Forpatientswith uncomplicated
HSP, the life expectancy is typically unchanged.
45. ⚫Caused bya human T-cell leukemiavirus type I
(HTLV-I) aftera long incubation period.
⚫Characterized bya chronic progressive paraparesis
with sphincterdisturbances, no/mild sensory
loss,the absence of spinal cord compression and
seropositivity for HTLV-I antibodies.
⚫Endemic in Caribbean, southern Japan, equatorial
Africa, South Africa, and parts Central and South
America
46. ⚫Variantof adrenoleukodystrophy, an X-linked
recessivedisorder (X-ALD).
⚫The genetic defect is located in the Xq28 region,
which encodes a peroxisomal membrane protein.
⚫X-ALD causes progressive demyelination in brain,
the adrenal gland and testicular atrophy.
⚫Mean age of onset is 27 years, slow progressive
spastic paraparesis and sphincterdysfunctions.
⚫88% presents with Addison’s disease
47. ⚫ Chronic neurogenicdisease –long term ingestion of chickpeas
(Lathyrus sativus) containing β-N-oxalylamino-L-
alanine(BOA), which isan glutamate receptoragonist.
⚫ Theonset isacute orchronic
⚫ Musclespasm and leg weakness
⚫ Spastic paraparesiswith orwithout some sensory and bladder
dysfunction.
⚫ Leg motor neurons in the motorcortex and thecorresponding
pyramidal tracts are predominatelyaffected.
⚫ Found in Bangladesh, China, Ethiopia, India, Romania, Spain
51. ⚫ Electromyography: loss of CMAP amplitude, diminished
conduction velocity, SNC studiesare normal in pure LMN
disorder.
⚫ Muscle biopsy: muscle fibers denervation could be seen early
than needle EMG examination
52. ⚫Acute poliomyelitis is prototypical disorderof acute
LMN dysfunction.
⚫Caused by RNA poliovirus, genus
Enterovirus, family Picornavirus.
⚫Small proportion -Either minor illness
(gastroenteritis) or the major illness several days
after the infection.
⚫Major illness resembles aseptic meningitis.
Approximately 50% of patient progress to paralytic
disease within 2-5 days.
53. ⚫Paralytic phase: localized fasciculations, severe
myalgia, hyperesthesia, and usually fulminant
focal and asymmetrical paralysis.
⚫Leg muscle involvement is more frequent, than
arm, respiratory, and bulbar muscles.
⚫Recovery may begin during first week, but it
estimated that 80% of recovery occurs in 6
months.
⚫Further improvement maycontinue over the
ensuing 18-24 months.
54. ⚫ Antecedentpoliomyelitis
⚫ Residual paralysis was generally absent or only
minimal.
⚫ Both polio-affected and unaffected siteof the limb
areequally involved by PPMA
⚫ Asymmetrical proximal muscular atrophy and
flaccid motor paresis in one or two limbs with
decreased tendon reflexes.
⚫ Fasciculation;myalgia, and hypesthesia
⚫ No Definitecause has been determined
55. ⚫Slowly progressive, asymmetrical muscle weakness
and atrophy
⚫Multifocal conduction block in motor nerve
conduction studies
⚫Elevated titer GM1 antibodies
⚫May be mistaken with ALS, SMA, benign focal
amyotrophy, progressive muscular
atrophy, CIDP, GBS.
⚫Treatment: IVIG, and cyclophosphamide
56. ⚫ Monomelic amyotrophy, and juvenile muscularatrophyare
used todescribe this intriguing entity.
⚫ Etiology is unknown.
⚫ Hirayama'sdisease: Progressive weakness over 1 to 4
years, then plateau
⚫ O'Sullivan-McLeod syndrome: Slow progression
⚫ 15 to 25 years; Male > Female: Up to 10:1
57. ⚫Weakness:
⚫ Often confined toa single arm
⚫ Distal involvement (97%): C7, C8 & T1 innervated
muscles; Hand & Forearm
⚫ Proximal > Distal: 10%
⚫ Side: Right = Left
⚫Atrophy: "Oblique amyotrophy"; Sparing
brachioradialis
⚫Tremor (80%): On fingerextension; Irregular &
Coarse (Minipolymyoclonus
58. ⚫Werdnig and Hoffmann in
1891 independently
described
⚫SMN1 (Telomeric SMN
(SMNT)) gene mutated in
95% of SMA
59. According to the ISMAC system, theageof onset for
spinal muscularatrophies is as follows:
⚫SMA type I (acute infantileor Werdnig Hoffman):
Onset is from birth to 6 months.
⚫SMA type II (chronic infantile): Onset is between
6 and 18 months.
⚫SMA type III (chronic juvenile): Onset is after 18
months.
⚫SMA type IV (adult onset): Onset is in adulthood
(mean onset, mid 30s).
60. ⚫ Childhood or Juvenile
⚫ Cramps may be 1stsymptom
⚫ Weakness
⚫ Proximal; Symmetric
⚫ Variabledegreesof severity
⚫ Some neverwalk
⚫Poorprognosis
⚫Scoliosis early
⚫ Lateronset: Betterprognosis
⚫ Progression
⚫ Most have lossof function overtime
⚫ ? Change in strength overtime
⚫Difficult to measure
⚫ Tremor
⚫ Tendon ref lexes: Reduced
61. ⚫Laboratory
⚫Serum CK: Normal
⚫Electrophysiology
⚫EMG: Fibrillations; Largeamplitude
action potentials
⚫NCS: Small amplitude CMAPs;
Mild slowing; Sensory normal
⚫Muscle biopsy
⚫Grouped atrophy
⚫Type I muscle fiber predominance
62. ⚫ Mostcommon adultonset SMA
⚫ BSMA: Long, 40-65 CAG repeats
⚫ CAG repeat length effects
⚫ Longer therepeats
⚫Earlierdiseaseonset
⚫? More severe SBMA disease
⚫Impaired spermatogenesis
⚫Noeffecton specificclinical features
⚫ Length inverselycorrelated with transcriptional activity
by theandrogen receptor
63. ⚫Age: Mean 27 years; Range 15 to 60 years
⚫Earlysymptoms & signs:Adolescence but
symptoms usually at 30 years
⚫Musclediscomfort: Crampsor Pain
⚫Fatigue: General; Chewing
⚫Gynecomastia: May be asymmetric
⚫Weakness: Not common early; May bedistal
⚫Lower > Upper limbweakness
64. ⚫Tremor: Hands; Postural & Action
⚫Tongue
Wasted; Weak; Moves rapidly
⚫NO upper motor neuron signs
⚫Androgen insensitivity related
⚫Gynecomastia (50% to 70%)
⚫Reduced fertility
⚫Testicularatrophy
⚫Groin hernia: 33%
Otherendocrine
⚫Diabetes mellitus in some patients
⚫Pituitary microadenoma: Rare
66. ⚫Widespread Lower Motor Neuron Syndrome
⚫Weakness: Distribution
⚫Distal & Proximal: Either may be more prominent
⚫Asymmetric
⚫Often involves paraspinous & respiratory muscles
⚫Often spares bulbar musculature
⚫Spontaneous motoractivity
⚫Cramps: Common in legs, at night
⚫Fasciculations
⚫Noupper motor neuron signs
⚫Pain: Related to immobility
⚫Timecourse
⚫Progressive
⚫Similarto, more rapid, orslowerthan, typical ALS
67. Laboratory
⚫ Muscle pathology: Grouped atrophy >
Fiber type grouping
⚫ No serum antibodies
⚫ No conduction block
⚫ No evidence for response to treatment
⚫ Differential diagnosis
⚫ Proximal lower motor neuron syndrome
Pathology
⚫ Loss of motor neurons in anterior horn
of spinal cord
⚫ Shrinkage of remaining motor neurons
⚫ Inclusion bodies:
Intracytoplasmic, Hyaline
Primary muscularatrophy
Notewasting, including
paraspinal muscles