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Definition

A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.

Acronym

RSMD1

Synonyms

Congenital merosin-positive muscular dystrophy with early spine rigidity
Congenital muscular dystrophy Eichsfeld type
Congenital muscular dystrophy merosin-positive with early spine rigidity
Desmin-related myopathy with Mallory bodies
MDRS1
Minicore myopathy severe classic form
Multicore myopathy severe classic form
Multiminicore disease severe classic form
Rigid spine syndrome
RSS
SEPN1-related myopathy

Keywords

Desmin-related myopathy

 
Disclaimer

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