neuronopathy, distal hereditary motor, autosomal dominant 8
Findings
No curated finding names neuronopathy, distal hereditary motor, autosomal dominant 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.
Definition from the Mondo Disease Ontology (MONDO:0010839), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- AreflexiaHPOHP:0001284
- 20 of 20 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 20 of 20 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 20 of 20 reported patients
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Distal amyotrophyHPOHP:0003693
- Very frequent (80% to 99% of cases)
- HypotoniaHPO
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.
- TRPV4HGNC:18083
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: neuronopathy, distal hereditary motor, autosomal dominant 8
- Also called
- autosomal dominant benign distal spinal muscular atrophyautosomal dominant congenital benign spinal muscular atrophycongenital benign spinal muscular atrophy with contracturescongenital nonprogressive spinal muscular atrophy