Scapuloperoneal spinal muscular atrophy

Orpha code: 431255OMIM code: 181405

Definition

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.

Disease data
Classification

Disease

Synonyms
Neurogenic scapuloperoneal amyotrophy, New England type
Neurogenna amiotrofia łopatkowo-strzałkowa, typ N England
Neuronopatia łopatkowo-strzałkowa
SPSMA
SPSMA
Scapuloperoneal neuronopathy
ORPHA code
431255
OMIM code
181405
ICD10 code
G12.1
ICD11 code
8B61.4

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl