/scapuloperoneal spinal muscular atrophy, autosomal dominant

scapuloperoneal spinal muscular atrophy, autosomal dominant

Rare Disease

MONDO:0008408

Also Known As

SPSMAneurogenic scapuloperoneal amyotrophy, New England typescapuloperoneal neuronopathyscapuloperoneal spinal muscular atrophyamyotrophy, neurogenic scapuloperoneal, New England type

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

TRPV4 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

Related Diseases

autosomal dominant polycystic liver disease

MONDO:0000447

Rare

tuberous sclerosis

MONDO:0001734

Rare

Treacher-Collins syndrome

MONDO:0002457

Rare

hereditary breast ovarian cancer syndrome

MONDO:0003582

Rare

autosomal dominant polycystic kidney disease

MONDO:0004691

Rare

Lynch syndrome

MONDO:0005835

Rare

← Back to All Diseases

scapuloperoneal spinal muscular atrophy, autosomal dominant

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases