neuronopathy, distal hereditary motor, autosomal recessive 4
Findings
No curated finding names neuronopathy, distal hereditary motor, autosomal recessive 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.
Definition from the Mondo Disease Ontology (MONDO:0012608), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLEKHG5HGNC:29105
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
5 names
Resolves to: neuronopathy, distal hereditary motor, autosomal recessive 4
- Also called
- autosomal recessive distal spinal muscular atrophy type 4autosomal recessive lower motor neuron disease with childhood onsetdistal spinal muscular atrophy type 4DSMA4spinal muscular atrophy, distal, autosomal recessive, type 4