Autosomal dominant distal myopathy

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Autosomal dominant distal myopathy

ORPHA:206650Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal dominant
Classified as
Category

Recorded for the broader condition

Prevalence
1-9 / 1 000 000 (United Kingdom)Distal myopathy
Age of onset
All agesDistal myopathy

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes reported in subtypes

ABCD3ACTN2BAG3CAV3CRYABDESDNAJB4DNAJB6FLNCGIPC1HNRNPA1HSPB8KLHL9LDB3LRP12MYH14MYH7MYOTNEBNOTCH2NLCNUTM2B-AS1RILPL1RYR1SQSTM1TIA1VCP

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 0016108MONDO 16108UMLS C5680803

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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