ATAXIA IN CHILDREN -CAUSES, MANAGEMENT, INVESTIGATIONS, TYPES, COMMONEST ATAXIA IN CHILDREN IN DETAIL, HOW WILL YOU FIND OUT THE CAUSE FOR ATAXIA IN CHILDREN FLOWCHART, DEFINITION, TREATMENT
ATAXIA IN CHILDREN -CAUSES, MANAGEMENT, INVESTIGATIONS, TYPES, COMMONEST ATAXIA IN CHILDREN IN DETAIL, HOW WILL YOU FIND OUT THE CAUSE FOR ATAXIA IN CHILDREN FLOWCHART, DEFINITION, TREATMENT
Parkinsonism is a clinical syndrome and, typically, when the condition
appears to be idiopathic and responsive to levodopa therapy, is referred
to as Parkinson’s disease1
• The four cardinal features of the parkinsonian syndrome are:2
– Bradykinesia
– Muscular rigidity
– Resting tremor
– Postural instability (and gait impairment)
• These features are not always observed in every patient, at any given
time
To make a diagnosis of PD, the physician must distinguish between
different forms of parkinsonism:1
– Parkinson’s disease
– Secondary parkinsonism
– Parkinsonism as part of another neurodegenerative disorder (e.g., multiple
system atrophy, progressive supranuclear palsy, corticobasal degeneration, or
Lewy body dementia)
SCALES COMMONLY USED IN
PARKINSON’S DISEASE
RESEARCH
SCALES COMMONLY USED IN
PARKINSON’S DISEASE
RESEARCH
Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin--the material that insulates nerve cells (neurons). Polyomavirus JC (often called JC virus) is carried by a majority of people and is harmless except among those with lowered immune defenses. The disease is rare and occurs in patients undergoing chronic corticosteroid or immunosuppressive therapy for organ transplant, or individuals with cancer (such as Hodgkin’s disease or lymphoma). Individuals with autoimmune conditions such as multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosus -- some of whom are treated with biological therapies that allow JC virus reactivation -- are at risk for PML as well. PML is most common among individuals with HIV-1 infection / acquired immune deficiency syndrome (AIDS). Currently, the best available therapy is reversal of the immune-deficient state, since there are no effective drugs that block virus infection without toxicity. Reversal may be achieved by using plasma exchange to accelerate the removal of the therapeutic agents that put patients at risk for PML. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals. Several new drugs that laboratory tests found effective against infection are being used in PML patients with special permission of the U.S. Food and Drug Administration. Hexadecyloxypropyl-Cidofovir (CMX001) is currently being studied as a treatment option for JVC because of its ability to suppress JVC by inhibiting viral DNA replication.
In general, PML has a mortality rate of 30-50 percent in the first few months following diagnosis but depends on the severity of the underlying disease and treatment received. Those who survive PML can be left with severe neurological disabilities.
Sequencing in management of Multiple sclerosisAmr Hassan
Sequencing of DMTs for individual multiple sclerosis patients should be designed in such a way to maximize disease control and minimize risk based on the mechanism of action, pharmacokinetic and pharmacodynamic properties of each therapy. This includes the DMT patients are being switched from to those they are being switched to. The reversibility of immune system effects should be a key consideration for DMT sequence selection. This feature varies across DMTs and should factor more prominently in decision making as newer treatments become available for the prevention of disability accumulation in patients with progressive MS. In this short review, we discuss the landscape of existing therapies with an eye to the future when planning for optimal DMT sequencing. While no cure exists for MS, efforts are being directed toward research in neuroregeneration with the hope for positive outcomes.
A neuromuscular disorder that leads to weakness of skeletal muscles.
Symptoms
Causes
Prevention
Complications
Common tests & procedures
Neurological examination:
Repetitive nerve stimulation test:
Antibody test:
Pulmonary function tests (PFTs): To check any breathing difficulty.
CT scan: To rule out a presence of tumor in thymus.
Magnetic resonance imaging (MRI): MRI of the chest is performed to rule out a presence of tumor in thymus.
Edrophonium (Tensilon) test:
Medication
Procedures
Nutrition
Prediction of outcome of Multiple sclerosisAmr Hassan
Prediction of outcome of Multiple sclerosis
An understanding of the natural history of multiple sclerosis(MS) in a patient is important to begin proper treatment at the correct time, especially when there is a high risk for poor prognosis. Factors that predict unfavorable prognosis are a primary or secondary progressive course, older age at disease onset, short interval between first and second attacks, initial cerebellar or pyramidal symptoms, a large number of functional systems involved at onset, moderate to severe disability within the first 2 years, and the presence of typical plaques or greater lesion volume shown by magnetic resonance imaging results during the first 5 years. However, there are no established laboratory tests able to predict long-term prognosis.
Lifestyle modification in epilepsy
Lifestyle Modifications
Lifestyle modifications can include:
Adequate sleep: Fatigue is one of the most common seizure triggers, and disrupted sleep can make the brain more vulnerable to misfiring.
Avoiding drugs and alcohol: These can be triggers for seizures in patients with epilepsy. Even one or two drinks can provoke seizures.
Minimizing emotional stress: Although there is not definitive proof that stress causes seizures, those who maintain healthy stress levels have reported that they believe it reduces their risk.
Frequency of exercise: In addition to a range of health benefits, regular exercise can help reduce risk of seizure. However, you should consult your physician before starting a new exercise routine, as some exercise can, rarely, cause seizures.
Childhood demyelinating syndromes
In the past decade, the number of studies related to demyelinating diseases in children has exponentially increased. Demyelinating disease in children may be monophasic or chronic. Typical monophasic disorders in children are acute disseminated encephalomyelitis and clinically isolated syndromes, including optic neuritis and transverse myelitis. However, some cases of acute disseminated encephalomyelitis or clinically isolated syndrome progress to become chronic disorders, including multiple sclerosis and neuromyelitis optica. This review summarizes the current knowledge on monophasic and chronic demyelinating disorders in children, focusing on an approach to diagnosis and management.
Diabetic polyneuropathy
Diabetic polyneuropathy (DPN) is defined as peripheral nerve dysfunction. There are three main alterations involved in the pathologic changes of DPN: inflammation, oxidative stress, and mitochondrial dysfunction.
Excessive daytime sleepiness
The most common causes of excessive daytime sleepiness are sleep deprivation, obstructive sleep apnea, and sedating medications. Other potential causes of excessive daytime sleepiness include certain medical and psychiatric conditions and sleep disorders, such as narcolepsy.
Vagal Nerve stimulation
Vagus nerve stimulation (VNS) is a medical treatment that involves delivering electrical impulses to the vagus nerve. It is used as an add-on treatment for certain types of intractable epilepsy and treatment-resistant depression. Frequent side effects include coughing and shortness of breath. Serious side effects may include trouble talking and cardiac arrest.
Dystonia
Dystonia is a movement disorder in which your muscles contract involuntarily, causing repetitive or twisting movements.
The condition can affect one part of your body (focal dystonia), two or more adjacent parts (segmental dystonia) or all parts of your body (general dystonia). The muscle spasms can range from mild to severe. They may be painful, and they can interfere with your performance of day-to-day tasks.
Dystonia: Causes, Types, Symptoms, and Treatments
Trigeminal neuralgia is sudden, severe facial pain. It's often described as a sharp shooting pain or like having an electric shock in the jaw, teeth or gums.
Trigeminal neuralgia
Contents
Overview
Symptoms
Causes
Diagnosis
Treatment
Nootropics and smart drugs are natural or synthetic substances that can be taken to improve mental performance in healthy people.
They have gained popularity in today’s highly competitive society and are most often used to boost memory, focus, creativity, intelligence and motivation.
Here’s a look at the ]best nootropics and how they enhance performance.
Nystagmus is a condition of involuntary (or voluntary, in some cases)eye movement, acquired in infancy or later in life, that in extremely rare cases may result in reduced or limited vision. Due to the involuntary movement of the eye, it has been called "dancing eyes"Contents
1 Causes
1.1 Early-onset nystagmus
1.2 Acquired nystagmus
1.3 Other causes
2 Diagnosis
2.1 Pathologic nystagmus
2.2 Physiological nystagmus
3 Treatment
4 Epidemiology
Basics of Neuroradiology
Neuroradiology is an essential tool in management of patients with neurological and neurosurgical disorders. The aim of this presentation will be to acquaint the reader to understand how images are formed on a computed tomography (CT) and magnetic resonance imaging (MRI) along with a review of the relevant neuroanatomy. This understanding will be helpful to the reader in interpretation of images and diagnosis of various neurological disorders.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
Follow us on: Pinterest
Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
4. Floppy infant refers to those children
presenting with generalized hypotonia, most
often arising out of an insult incurred during
fetal or neonatal period.
7. Prenatal risk factors:
• History of drug or teratogen exposure
• Presence of polyhydramnios
• Maternal diseases (diabetes, epilepsy)
• Parental age
• Consanguinity
• Family history of neuromuscular disease
• Other affected siblings
8. History
History since delivery
▪ Respiratory effort
▪ Ability to feed
▪ Level of alertness
▪ Level of spontaneous activity
▪ Character of cry
▪ Apgar scores
▪ Resuscitation requirements
9. History
Any significant family history
▪ Affected parents
▪ Siblings
▪ Consanguinity
▪ Stillbirths
▪ Childhood deaths
12. Identification of hypotonia
Holding the infant in
horizontal suspension
The back hangs over the
examiner's hand, and the
limbs and head hang loosely
Passive extension of the legs
at the knees no resistance is
met
Pulling the infant from the
supine to sitting position the
head lags and continues to lag
when the sitting position is
reached
13. Identification of
hypotonia
Holding the infant under
the arms
The legs will be
extended
Decreased tone of the
shoulder girdle allows
the infant to slip through
the examiner's hands
14. Put the child in a supine
position and hold one of
the infant’s hands.
Try to put it around the
neck as far as possible
around the opposite
shoulder.
Observe how far the
elbow goes across the
body.
In a floppy infant, the
elbow easily crosses the
midline.
15.
16. The same infant in horizontal
suspension. Note the inverted U posture.
17. A 12-week-old male infant with excessive head-
lag evident on ‘pull-to-sit’. Note the hypotonic
posture of the legs with external rotation.
22. Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008
23. Physical Examination
Clues and Pitfalls
▪ Profound central hypotonia may have absent DTR
▪ Absent DTR in the first few DOL would not rule out a
central cause for the hypotonia
24. Physical Examination
Clues and Pitfalls
▪ Presence of profound weakness and hypotonia suggest:
▪ Disorder of the lower motor neuron
A sign of this may be a weak cry
▪ Weakness is uncommon in central hypotonia except in
the acute stages
25. Physical Examination
Clues and Pitfalls
▪ Arthrogryposis (the fixation of joints at birth)
▪ Associated with:
Neonatal hypotonia
More commonly with lower motor neuron unit
Multisystem abnormalities
26. Clues in cerebral hypotonia
Cerebral Hypotonia in newborns usually does not pose
diagnostic difficulty.The history and physical examination
identify the problem.
Normal or Brisk reflexes
Other abnormal brain functions: delay, seizures
Fisting
Movement through postural reflexes
Scissoring on vertical suspension
Dysmorphic features
Extra-cranial organ malformations
27. Clues in motor unit hypotonia
Disorders of the motor unit are not associated with
malformations of other organs except for joint
deformities and the mal development of bone
structures.
Absent or Depressed reflexes
Intact brain function
Muscle atrophy
Fasciculations
Failure of movement through postural reflexes
No extra-cranial organ malformations
28. Physical Examination
Anterior horn cells
▪ Generalized weakness
▪ Decreased/ absent DTRs
▪ Fasciculations
▪ Often described as alert
38. Many hypotonic children due to causes in central
nervous system are mentally retarded.
In atonic or hypotonic cerebral palsy, reflexes are
brisk in spite of generalized flaccidity.
Floppy infant due to cerebral causes is associated
with lethargy, poor feeding, and lack of alertness,
poor Moro’s reflex, and seizures during the neonatal
period.
40. Injuries in Breech Presentation
Injuries to the cervical spinal cord occur almost
exclusively during vaginal delivery;
approximately 75% are associated with breech
presentation and 25% with cephalic presentation.
Because the injuries are always associated with a
difficult and prolonged delivery, decreased
consciousness is common, and hypotonia is falsely
attributed to asphyxia or cerebral trauma.
MRI of the spine shows intraspinal edema and
hemorrhage
41. Injuries in Cephalic Presentation
Twisting of the neck during midforceps
rotation causes high cervical cord injuries in
cephalic presentation.
The trunk fails to rotate with the head.
The risk is greatest when amniotic fluid is
absent because of delay from the time of
membrane rupture to the application of
forceps.
42. Poliovirus Infection
Small RNA virus : Neurotropic
Seasonal epidemics
Prodromal illness
Pain -->Asymmetric Paralysis
Rare but still occurs
vaccine related : 1 in 12 million
43. Mass lesions of spinal cord
Rare
Intra-AbdominalTumors
Neuroblastoma
Early in Infancy
51. SMA is the second most common autosomal recessive
disease in the US after cystic fibrosis.
Incidence:
Type 1: 1 per 10,000 live births
Types II and III: 1 per 24,000 births
Worldwide 7.8-10 cases per 100,000 live births
? M:F predominance or M>F
No ethnic predominance.
52. The genetic defects associated with SMA
types I-III are localized on chromosome
5q11.2-13.3.
Mutations in the SMN gene result in a loss of
function of the SMN protein.
Many classification systems based on
inheritance, clinical, and genetic criteria.
53.
54. SMA type I, (Werdnig-Hoffmann acute infantile),
occur birth – 6 months (95% by 3 months)
Severe, progressive muscle weakness and flaccid or
reduced muscle tone (hypotonia).
Bulbar dysfunction includes poor suck ability, reduced
swallowing, and respiratory failure.
Patients have no involvement of the extraocular
muscles, and facial weakness is often minimal or
absent.
They have no evidence of cerebral involvement, and
infants appear alert.
55. Impaired fetal movements are observed in 30% of
cases
60% of infants with SMA type I are floppy babies at
birth. Prolonged cyanosis may be noted at delivery.
In some instances, the disease can cause fulminant
weakness in the first few days of life. Such severe
weakness and early bulbar dysfunction -> mean
survival of 5.9 months.
Affected children never sit or stand.
In 95% of cases, infants die from complications of
the disease by 18 months.
56. SMA type II (chronic infantile, sitters) usually
begin between 6 - 18 months.
Most common form of SMA
Most common manifestation is developmental
motor delay. Infants with SMA type II often have
difficulties with sitting independently or failure
to stand by 1 year of age.
These children may learn to sit but will never be
able to stand or walk.
57. An unusual feature of the disease is a postural
tremor affecting the fingers. This is thought to be
related to fasciculations in the skeletal muscles
Pseudohypertrophy of the gastrocnemius muscle,
musculoskeletal deformities, and respiratory failure
can occur.
The lifespan of patients with SMA type II varies from
2 years to the third decade of life. Respiratory
infections account for most deaths.
58. SMA type III (Kugelberg-Welander, chronic juvenile,
walkers) appear 18 months – adult.
Slowly progressive proximal weakness. Most can stand
and walk but have trouble with motor skills, such as
going up and down stairs.
Bulbar dysfunction occurs late in the disease.
Patients may show evidence of pseudohypertrophy.
The disease progresses slowly, and the overall course is
mild. Many patients have normal life expectancies.
59.
60. Congenital SMA with arthrogryposis (persistent
contracture of joints with fixed abnormal posture
of the limb) is a rare disorder. Manifestations
include
1. severe contractures,
2. curvature of the spine,
3. chest deformity,
4. respiratory problems,
5. an unusually small jaw, and
6. drooping upper eyelids.
69. Infantile botulism
Infants usually 2 - 26 weeks old
Clostridium Botulinum --> Exotoxin
Prevents release of Acetylcholine
Cholinergic Blockade of skeletal muscle
Source of intestinal colonization usually
unclear
Occurs mainly between March & October
70. Prodrome: poor feeding &
constipation
Progressive bulbar & general weakness
Loss of deep tendon reflexes
Hypotonia
Dysphagia
Ptosis
Sluggish dilated pupils
87. Investigation
Central Causes
▪ Neuroimaging
▪ Ultrasound scan in the first instance
▪ MRI for structural abnormality
▪ EEG: if seizures suspected
88. Investigation
Central Causes
▪ Genetics review if any dysmorphic features present
▪ Karyotype (if dysmorphic features)
▪ TORCH screen
▪ DNA methylation studies or FISH for Prader-Willi
syndrome (if clinically indicated after a genetics review)
▪ Metabolic work up
90. Investigation
Peripheral causes
▪ Creatine kinase: If elevated in an early sample, repeat
after a few days.
▪ Nerve conduction studies
▪ Muscle biopsy
▪ Depending on clinical situation, may be delayed until around 6
months of age as neonatal results are difficult to interpret
92. Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008
93. Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008
94. Site of involvement
Deep tendon
reflexes EMG Muscle biopsy
Central Normal or
increased
Normal Normal
Anterior horn cell Absent Fasciculation /
fibrillation
Denervation
pattern
Peripheral nerve Decreased Fibrillation Denervation
pattern
Neuromuscular
junction
Normal Decremental /
incremental
Normal
Muscle Decreased Short duration small
amplitude potential
Characteristic
NeurologyChapter of IAP