autosomal recessive distal hereditary motor neuronopathy 4

Term ID

DOID:0111213

Synonyms

• autosomal recessive distal spinal muscular atrophy type 4
• autosomal recessive lower motor neuron disease with childhood onset
• distal spinal muscular atrophy type 4
• DSMA4

Definition

An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. (2)

References

• MESH:C567023
• MIM:611067
• ORDO:206580
• SNOMEDCT_US_2023_03_01:771302009
• UMLS_CUI:C1970211

Ontology

Human Disease   ( DOID:0111213 )