distal spinal muscular atrophy type 5 (DSMA5)

Pathology

• distal hereditary motor neuropathy

Genetics

• autosomal dominant form associated with defects in GARS

Clinical manifestations

• phenotype similar to Charcot-Marie-Tooth disease type-2D

Differential diagnosis

• Charcot-Marie-Tooth disease type-2D main characteristic that distinguishes these disorders is the less severe distal sensory involvement in DSMA5 patients

More general terms

• distal spinal muscular atrophy

Database

• OMIM: https://mirror.omim.org/entry/600794