Scapuloperoneal spinal muscular atrophy
What is Scapuloperoneal spinal muscular atrophy?
A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.
Other condition names
- Neurogenic scapuloperoneal amyotrophy, New England type
- SPSMA
- Scapuloperoneal neuronopathy
Inheritance type
Autosomal dominant
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Childhood
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.