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neuronopathy, distal hereditary motor, type 2A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, type 2A

MONDO:0008025

Also known as:HSPB8 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in HSPB8Charcot-Marie-Tooth disease, spinal, 2A

Overview

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene.

GeneticsAutosomal dominant · HSPB8 (chr 12)

ResearchLimited published research (1 article)

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: EMG: neuropathic changes, Distal lower limb muscle weakness, Distal muscle weakness, and Paralysis and 3 more.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Areflexia of lower limbs

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.

HSPB8 encodes heat shock protein family B (small) member 8 (196 aa). Involved in the chaperone-assisted selective autophagy (CASA), a crucial process for protein quality control, particularly in mechanical strained cells and tissues such as muscle. Highest expression in Esophagus Muscularis (583.2 TPM) and Colon Sigmoid (522.6 TPM).

Neuronopathy, distal hereditary motor, type 2A is associated with mutations in the HSPB8 gene on chromosome 12.

HSPB8 is classified as a druggable target (Kinase and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for HSPB8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuronopathy, distal hereditary motor, type 2A has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neuronopathy, distal hereditary motor, type 2A.

1 publication has been identified in PubMed for neuronopathy, distal hereditary motor, type 2A. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Abati E (2026). [PMID: 42020662](https://pubmed.ncbi.nlm.nih.gov/42020662/). *Sci Rep*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:158590

GARD

Genetic and Rare Diseases Info Center

GARD:18262

Questions for Your Care Team

→Should I pursue genetic testing for HSPB8, and what would the results mean for my family?
→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, type 2A

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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