loading...| Preferred Name |
Scapuloperoneal spinal muscular atrophy |
| ID |
http://www.orpha.net/ORDO/Orphanet_431255 |
| alternative_term |
Scapuloperoneal neuronopathy Neurogenic scapuloperoneal amyotrophy, New England type SPSMA |
| 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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431255 |
| has_age_of_onset |
Childhood Neonatal Infancy |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-11:8B61.4 UMLS:C0751335 ICD-10:G12.1 OMIM:181405 |
| label |
Scapuloperoneal spinal muscular atrophy |
| notation |
ORPHA:431255 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_431255 |
| prefLabel |
Scapuloperoneal spinal muscular atrophy |
| present_in |
Worldwide AND has_cases/families_value : 31.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView | |
| subClassOf |