Reducing body myopathy

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Reducing body myopathy

ORPHA:97239Disease

What it is

A rare myopathy characterized by progressive muscle weakness and the presence of characteristic reducing bodies in muscle fibres. Reducing bodies are defined histopathologically by a strong menadione nitro blue tetrazolium reaction in the absence of the substrate, alpha-glycerophosphate.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adult, Childhood, Infancy
Inheritance
X-linked dominant, X-linked recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

FHL1Disease-causing germline mutation(s)

ICD-10 codes

G71.2filed under a broader ICD-10 category — shared with 56 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

GARD 12162MONDO 0019948OMIM 300717OMIM 300718UMLS C0270970

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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