Brief description about MND disease.

1. MND(MOTOR NEURON DISEASE)
Presented By-
Dr Amandeep kaur
PG Scholar
Final year
Gurukul Campus
UAU, Haridwar

2. MND is a progressive neurodegenerative disease.
In the classical form(also termed ‘amyotrophic
lateral sclerosis’ )degeneration of corticospinal tract
neurons in the motor cortex( upper motor neurons)
and brainstem and spinal cord motor neurons (lower
motor neurons) results in a unique combination of
upper and lower motor neuron signs.
DEFINITION

3. Amyotrophic lateral sclerosis(ALS) is one of multiple
degenerative motor neuron diseases that are clincally defined,
based on the involvement of upper and/or lower motor neurons.
ALS is the most common form and includes upper motor
neuron(UMN) and lower motor neuron( LMN) pathology.
SPECTRUM OF MOTOR NEURON DISEASE

4. CLASSIFICATION
HEREDITARY SPORADIC
Werdnig-Hoffmann disease[Infantile
spinal muscular atrophy (infantile SMA)]
Amyotrophic lateral sclerosis(most
common)
Kugelberg- Welander disease[Adolescent
spinal muscular atrophy(adolescent SMA)
Progressive muscular atrophy(PMA) or
spinal muscular atrophy(SMA)
Others Progressive bulbar palsy
Primary lateral sclerosis(PLS)
Multifocal motor neuropathy with
conduction block

5. Primary lateral sclerosis
Hereditary spastic paraplegia
HTLV-1 associated myelopathy
Adrenomyeloneuropathy
Lathyrism
UMN DISORDERS

6. Poliomyelitis
Multifocal motor neuropathy
Benign focal amyotrophy
Hopkins syndrome: Acute post-asthmatic
amyotrophy
Spinal muscular atrophy
Bulbo-spinal muscular atrophy(BSMA ;
Kennedy’s syndrome; X-linked)
Primary muscular atrophy(PMA)
LMN DISORDERS

7. ALS is considered a degenerative disorder of the upper and
lower motor neurons.
However, some patients have all the clinical features of ALS
along with features of other disorders such as
Frontotemporal dementia
Autonomic insufficiency
Parkinsonism, supranuclear gaze paresis and/or sensory
loss
Such patients are considered to have ALS plus syndrome.
ALS PLUS SYNDROME

8. Insidious onset and steadily progressive course.
Combination of lesions of UMN and/or LMN is characteristic.
Widespread fasciculations are common.There is no sensory or bladder
involvement.
Avearge age of onset is sixth decade.
Four patterns are recognised in early stages that later merge with each
other.
GENERAL CLINICAL FEATURES

9. Also known as LOU GEHRIG,S
DISEASE/Charcoat disease/Motor Neuron
Disease
First described by Jean Martin Charcoat in
1869.
Degeneration of UMN AND LMN
ALS

10. A-MYO-TROPHIC LATERAL
SCLEROSS(ALS)
• Amyotrohic: no muscle
nourishment
• Lateral: refers to the area in a
person’s spinal cord where
portions of the nerve cells
that signal and control the
muscles are located
• Sclerosis: scarring of the
affected nerves

11. CLINICAL PATTERNS OF MND
Amyotrophic lateral sclerosis
Progressive muscular atrophy(PMA)
Progressive bulbar paralysis
Primary lateral sclerosis
Others
1. Familial MND- Chromosome 21.
2.Variants of MND
Madras MND.Young adult,slowly progressive asymmetrical wasting and
weakness of limbs along with pyramidal involvement, resulting ultimately in
features of ALS. Raised serum pyurvate levels.
Monomelic amyotrophy. Adolescents.Progressive weakness and wasting of
one limb(usually upper) commonly wasted muscles are elbow flexors followed
by small hand muscles.
Hemiplegic MND
Wasted leg syndrome
Crural ALS
MND with Parkinsonism
MND with dementia

12. CLINICAL FEATURES:
Limb weakness-Progressive asymmetrical weakness of the limbs.
Begins in the leg as foot drop, in the hands with difficulty of fine movements.
Localized wasting is common.
Fasciculations are often present.
Severe cramps may present.
Bulbar symptoms-
It is presenting feature in about 25% of patients. Dysarthria is either in the form
of nasal speech (bulbar palsy) or, more commonly, spastic dysarthria
(pseudobulbar palsy), or a combination of two. This is followed by dysphagia
with drooling of saliva.
Other presentations- A small number presents with respiratory failure.
Involvement of bladder and bowels is uncommon. Dementia of frontal lobe type
may be seen in 2%.
AMYOTROPHIC LATERAL
SCLEROSIS

13.  ALS is characterized by motor neuron degeneration and death with gliosis
replacing lost neurons.
 Cortical motor cells (pyramidal and betz cells) disappear leading to retrograde
axonal loss and gliosis in the corticospinal tract.
 This gliosis results in the bilateral white matter changes sometimes seen in the
brain magnetic resonance imaging (MRI) of patients with ALS.
 The spinal cord becomes atrophic.The ventral roots become thin, and there is
a loss of large myelinated fibres in motor nerve.
 The affected muscles show denervation atrophy.
PATHOLOGY

14. Muscular fasciculations
Weakness
Wasting
Brisk tendon reflexes
Extensor plantars
Brisk jaw jerk(Bulbar onset)
Spasticity (marked in younger patients)
Eye movements normal
Dysarthria( involvement of bulbar muscles)
Reduced cough and gag reflex
Tongue shows wasting and fasciculations
Normal sensation
No bladder or bowel disturbance
Tachypnoea due to ventilatory failure
EXAMINATION

15. SMA is divided into four types:
SMA type I or werdnig-Hoffman disease, usually presents before 6 months of age.
Infants are unable to sit unaided and death often occurs before 2 years without
respiratory support.
Children with SMA type II become symptomatic before 18 months, can sit but not
stand unaided, and survival is variable.
SMA type III (also known as Kugelberg-Welander disease) presents in
adolescence. Patients can walk or run and survive to adulthood.
Type Ⅳ SMA denotes adult-onset cases.
Most benign variety of motor neuron disease.(Pure LMN presentation)
a. Atrophy, weakness and fasciculations. Onset usually with wasting of one
hand(first dorsal interosseous muscle). Tendons become prominent as hand
muscles waste, giving guttered appearance(Skeleton hand). Eventually wasting
spreads to all four limbs and trunk.
b. Loss of tendon reflexes
PROGRESSIVE MUSCULAR
ATROPHY(PMA)/SPINAL MUSCULAR
ATROPHY(SMA)

16. DIAGNOSTIC CRITERIA FOR
CLINICAL DIAGNOSIS OFALS
DEFINITE ALS UMN and LMN signs in at least 3
regions(bulbar and spinal regions or 3
spinal regions without bulbar)
PROBABLE ALS UMN and LMN signs in 2 regions, with
some UMN signs rostral to LMN signs
SUSPECTED ALS, Lab supported LMN signs only in 2 or more regions and
EMG evidence of involvement in atleast 2
limbs
POSSIBLE ALS UMN and LMN signs in 1 region, or
UMN signs alone in 2 or more regions;
LMN signs are rostral to UMN signs.

17. Dysphagia, dysarthria and dysphonia.
Nasal regurgitation of fluids and nasal slurred
voice.
Tongue wasted and folded and fasciculations
visible.
Absent jaw jerk and gag reflex.
Rapid progression.
PROGRESSIVE BULBAR
PARALYSIS

18. Refers to slowly progressive spasticity and
weakness of the limbs, more marked in the legs,
which may be associated with pseudobulbar
palsy. It has a better prognosis(Pure UMN
presentation)
PRIMARY LATERAL
SCLEROSIS

19. Degeneration of corticobulbar pathways of Ⅴ, Ⅶ, Ⅸ, Ⅺ and
Ⅻ cranial nerve nuclei.
Weakness of muscles of mastication and difficulty in chewing.
Expressionless face
Exaggerated jaw jerk, Brisk gag reflex.
Palatal weakness allowing food and fluid to enter nasopharynx
Monotonous speech
Tongue immobile and cannot be potruded.
Emotional lability-Spontaneous outbrusts of laughing and
crying.
PSEUDOBULBAR PALSY

20. No Specific test.
Investigations are performed to exclude other
conditions-
a. MRI of spinal cord- to exclude compressive
lesion in neck. Cranial MRI in patients with
bulbar onset to exclude brainstem lesions.
On T2 weighted images, high intensity
lesions are visible in motor cortex, internal
capsule and brainstem.
b. EMG and nerve conduction studies- reveal
anterior horn cell damage but do not specify
the cause.
c. Creatine phosphokinase may be slightly
raised.
d. CSF is normal.
INVESTIGATIONS

21. MND progresses rapidly and is hence difficult to
manage.
Drug treatment-
a) Riluzole, a glutamate release inhibitor used early
in the evolution of the disease may prolong
survival.
b) Botulinum toxin to control drooling.
c) Baclofen or Tizanidine for spasticity.
d) Antidepressant drugs.
e) Gastrostomy to reduce expiration.
MANAGEMENT

22. SYMPTOMATIC
TREATMENT
Depression and insomnia Antidepressants
Dysphagia Food thickners initially, but definitive procedure is
percutaneous endoscopic gastrotomy.
Dysarthria Speech and language therapy
Ventilatory failure Non-invasive nocturnal nasal intermittent positive pressure
ventilation in some patients who have good bulbar and limb
function.
Spasticity Baclofen or dantrolene. Quinine for muscle cramps.
Dyspepsia Antacids, H2 blockers or omeprazole.
Excess saliva Anticholinergics such as benzhexol or antidepressant, e.g.
amitriptyline

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28. "Stephen Hwaking was an inspiration to
so many, " says Aisling Farrell, head of
the Irish Motor Neuron Disease
Association(IMNDA).