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Autosomal dominant childhood-onset proximal spinal muscular atrophy
A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
ORPHA:363447Classification level: Disorder
- Guidance for genetic testing
- Français (2018, pdf)