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neuronopathy, distal hereditary motor, autosomal recessive 5 (DSMA5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, autosomal recessive 5

MONDO:0013947

Also known as:DSMA5Young adult-onset dHMNautosomal recessive distal spinal muscular atrophy type 5

Overview

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

GeneticsAutosomal recessive · DNAJB2 (chr 2)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Difficulty walking (gait disturbance), Areflexia, Distal muscle weakness, and Foot dorsiflexor weakness and others; and common findings: Pes cavus and Dysphonia. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Distal muscle weakness, Foot dorsiflexor weakness, Spinal muscular atrophy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DNAJB2 encodes DnaJ heat shock protein family (Hsp40) member B2 (324 aa). Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family. Highest expression in Brain Spinal cord cervical c-1 (243.3 TPM) and Brain Cerebellum (240.3 TPM).

Neuronopathy, distal hereditary motor, autosomal recessive 5 is associated with mutations in the DNAJB2 gene on chromosome 2.

DNAJB2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAJB2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614881

Orphanet

European rare disease database

Orphanet:314485

GARD

Genetic and Rare Diseases Info Center

GARD:17421

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neuronopathy, distal hereditary motor, autosomal recessive 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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