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myopathy, distal, 7, adult-onset, X-linked (MPD7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, distal, 7, adult-onset, X-linked

MONDO:0024771

Also known as:MPD7

Overview

GeneticsX-linked · SMPX (chr X)

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: Distal lower limb muscle weakness; and very common findings: Fatty replacement of skeletal muscle. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Centrally nucleated skeletal muscle fibers, Distal upper limb muscle weakness, Fatty replacement of skeletal muscle

Genetic Landscape

SMPX function has not been fully characterized.

Myopathy, distal, 7, adult-onset, X-linked is associated with mutations in the SMPX gene on chromosome X.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 9 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301075

Questions for Your Care Team

→Should female family members consider carrier screening for SMPX?
→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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myopathy, distal, 7, adult-onset, X-linked

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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