Catalog

Autosomal recessive lower motor neuron disease with childhood onset

No MMS code

Link to WHO Definition

Autosomal recessive lower motor neuron disease with childhood onset – http://id.who.int/icd/entity/1852084767

A single consanguineous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified.