Neuro-Muscular disorders + Movement D Flashcards
Inheritance of Duchenne Muscular Dystrophy?
X-linked recessive (new mutation rate 30%)
Xp21 gene
Incidence of DMD?
1/3000 Males
Underlying abnormality in DMD?
Decreased production of dystrophin
Clinical Features of DMD?
Progressive weakness
Calf hypertrophy
Intellectual impairment
Proliferation of connective tissue in muscle
% of DMD patients with cardiomyopathy?
50-80%
Effects of steroids in DMD?
Decrease the rate of apoptosis of myotubules
What does dystrophin do?
links actin filaments to a complex of transmembrane proteins (and hence to the extracellular matrix)
Mutations which affect the C-terminus or actin binding region cause DMD
Inheritance of Myotonic Muscular dystrophy?
AD
Due to CTG tri-nucleotide expansion
Facial findings of neonates with Myotonic muscular dystrophy?
Inverted V shaped upper lip
Thin cheeks
Narrow head
High arched palate
The weakness of Myotonic muscular dystrophy is?
Progressive distal muscle wasting (starts with thenar/hypothenar muscles)
What is myotonia?
Slow relaxation following muscular contraction
Muscle biopsy with myotonic muscular dystrophy shows what?
Central nuclei, atrophy and scattered degenerating fibers
Cardiac complications of myotonic muscular dystrophy?
Heart block
Arrhythmias
Which inherited neuromuscular disease carries a risk of Malignant Hyperthermia?
Central core myopathy
Progressive ataxia + kyphoscoliosis + nystagmus + pes cavus (high arch) + abnormal EEG. Diagnosis?
Friedreich ataxia
