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myopathy, distal, 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, distal, 5

MONDO:0014877

Also known as:ADSSL1 distal myopathyADSSL1-related distal myopathyMPD5

Overview

Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.

GeneticsAutosomal recessive · ADSS1 (chr 14)

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: Muscle fiber splitting, Distal upper limb muscle weakness, Distal lower limb muscle weakness, and Distal amyotrophy and others; and common findings: Rimmed vacuoles.

Organ System	Phenotype Count	Example Features
Muscles	5	Muscle fiber splitting, Distal upper limb muscle weakness, Distal lower limb muscle weakness

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.

ADSS1 encodes adenylosuccinate synthase 1 (457 aa). Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Highest expression in Muscle Skeletal (313.4 TPM) and Artery Tibial (64.7 TPM).

Myopathy, distal, 5 is associated with mutations in the ADSS1 gene on chromosome 14.

ADSS1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for ADSS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myopathy, distal, 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 1 common feature.

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

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 myopathy, distal, 5.

155 publications have been identified in PubMed for myopathy, distal, 5. Research spans Case Report / Case Series (30%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	46	30%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617030

Orphanet

European rare disease database

Orphanet:482601

GARD

Genetic and Rare Diseases Info Center

GARD:17878

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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Kisho

myopathy, distal, 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myopathy, distal, 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications