neuronopathy, distal hereditary motor, type 5C
Findings
No curated finding names neuronopathy, distal hereditary motor, type 5C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.
Definition from the Mondo Disease Ontology (MONDO:0030860), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Juvenile onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Babinski signHPOHP:0003487
- 3 of 3 reported patients
- Chaddock reflexHPOHP:0010875
- 3 of 3 reported patients
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- 3 of 3 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- Distal lower limb muscle weaknessHPOHP:0009053
- Frequent fallsHPOHP:0002359
- Adult onset
- Gait disturbanceHPOHP:0001288
- Pes cavus
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.
- BSCL2HGNC:15832
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: neuronopathy, distal hereditary motor, type 5C
- Also called
- DHMN5CHMN5Cneuropathy, distal hereditary motor, type VCspinal muscular atrophy, distal, type 5C