📋 Paediatrics
Neuromuscular Disorders Explained SMA Duchenne Becker FSHD Limb Girdle Myotonic Dystrophy Guide
Complete guide to neuromuscular disorders including SMA Duchenne muscular dystrophy Becker dystrophy FSHD limb girdle muscular dystrophy and myotonic dystrophy type 1. Learn causes genetics symptoms diagnosis and management in a concise high-yield format for medical students and professionals.
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Frequently Asked Questions
❓ What are neuromuscular disorders in pediatrics?
Neuromuscular disorders are conditions affecting motor neurons peripheral nerves neuromuscular junction or muscles leading to weakness hypotonia and impaired motor function in children.
❓ What is spinal muscular atrophy and how does it present?
Spinal muscular atrophy is an autosomal recessive disorder caused by SMN1 gene mutation leading to degeneration of anterior horn cells presenting with hypotonia weakness areflexia and tongue fasciculations in infants.
❓ What are the types of spinal muscular atrophy?
SMA is classified into type 1 severe infantile type 2 intermediate and type 3 mild juvenile form based on age of onset and motor milestones achieved.
❓ What is Duchenne muscular dystrophy and its key features?
Duchenne muscular dystrophy is an X linked disorder caused by absence of dystrophin presenting with progressive proximal weakness Gowers sign calf pseudohypertrophy and cardiomyopathy.
❓ What is the difference between Duchenne and Becker muscular dystrophy?
Duchenne is caused by frameshift mutation leading to absent dystrophin with early severe disease while Becker is due to non frameshift mutation with partially functional dystrophin and milder later onset disease.
❓ What is facioscapulohumeral dystrophy?
Facioscapulohumeral dystrophy is an autosomal dominant disorder characterized by facial weakness scapular winging and asymmetric muscle involvement due to D4Z4 deletion on chromosome 4.
❓ What is limb girdle muscular dystrophy?
Limb girdle muscular dystrophy is a group of genetic disorders causing progressive weakness of shoulder and pelvic girdle muscles with variable inheritance patterns and no significant facial involvement.
❓ What is myotonic dystrophy type 1?
Myotonic dystrophy type 1 is an autosomal dominant disorder caused by CTG repeat expansion in DMPK gene leading to myotonia distal weakness cataracts cardiac conduction defects and endocrine abnormalities.
❓ What is myotonia and how is it clinically identified?
Myotonia is delayed muscle relaxation after contraction clinically seen as difficulty releasing grip or percussion myotonia and confirmed by myotonic discharges on EMG.
❓ What is Gowers sign and in which condition is it seen?
Gowers sign is the use of hands to climb up the thighs while rising from the floor indicating proximal muscle weakness and is classically seen in Duchenne muscular dystrophy.
❓ How are neuromuscular disorders diagnosed in children?
Diagnosis involves clinical examination serum CK levels genetic testing EMG studies and sometimes muscle biopsy depending on the suspected condition.
❓ Why is CK elevated in muscular dystrophies?
Creatine kinase is elevated due to muscle fiber breakdown and leakage of intracellular enzymes into the bloodstream.
❓ What are the complications of Duchenne muscular dystrophy?
Complications include cardiomyopathy respiratory failure scoliosis and loss of ambulation typically by early adolescence.
❓ What is the role of steroids in Duchenne muscular dystrophy?
Steroids such as prednisolone and deflazacort help delay disease progression preserve muscle strength and prolong ambulation.
❓ What are disease modifying treatments for spinal muscular atrophy?
Treatments include nusinersen which modifies SMN2 splicing risdiplam and gene therapy with onasemnogene abeparvovec to increase SMN protein production.
❓ What is anticipation in myotonic dystrophy?
Anticipation refers to increasing severity and earlier onset of disease in successive generations due to expansion of CTG repeats.
❓ How does facioscapulohumeral dystrophy differ from limb girdle dystrophy?
FSHD involves facial and scapular muscles with asymmetry whereas limb girdle dystrophy primarily affects proximal limb muscles without facial involvement.
❓ What causes respiratory failure in neuromuscular disorders?
Respiratory failure occurs due to weakness of respiratory muscles leading to hypoventilation and reduced cough effectiveness.
❓ What is the importance of genetic testing in neuromuscular disorders?
Genetic testing confirms diagnosis identifies mutation type guides prognosis and enables genetic counseling for families.
❓ What are key red flags for neuromuscular disorders in children?
Red flags include delayed motor milestones hypotonia progressive weakness loss of previously acquired skills calf hypertrophy and family history of similar illness.