myopathy SEPN-related
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Classification
- a group of 4 neuromuscular disorders
- classic multiminicore disease
- rigid spine muscular dystrophy 1 syndrome
- desmin-related myopathy with Mallory body-like inclusions
- congenital fiber-type disproportion
Genetics
- associated with defects in SEPN1
Clinical manifestations
- poor axial muscle strength
- scoliosis & neck weakness
- variable degree of spinal rigidity
- early ventilatory insufficiency
Complications
- death by respiratory failure