neuronopathy, distal hereditary motor, autosomal recessive 5
Findings
No curated finding names neuronopathy, distal hereditary motor, autosomal recessive 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive distal hereditary motor neuropathy caused by a variation in DNAJB2 gene, characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment.
Definition from the Mondo Disease Ontology (MONDO:0013947), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive · Young adult 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.
- AreflexiaHPOHP:0001284
- 3 of 3 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 3 of 3 reported patients
- Distal muscle weaknessHPOHP:0002460
- 3 of 3 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 3 of 3 reported patients
- Gait disturbanceHPOHP:0001288
- 3 of 3 reported patients
- DysphoniaHPOHP:0001618
Genes
2 genes
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.
- DNAJB2HGNC:5228
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- VWA1HGNC:30910
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: neuronopathy, distal hereditary motor, autosomal recessive 5
- Also called
- autosomal recessive distal spinal muscular atrophy type 5DNAJB2-related CMT2DSMA5