Intermediate nemaline myopathy

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Intermediate nemaline myopathy

ORPHA:171433Disease

What it is

Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
Neonatal
Inheritance
Autosomal dominant, Autosomal 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.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ACTA1Disease-causing germline mutation(s)
KLHL41Disease-causing germline mutation(s) (loss of function)
NEBDisease-causing germline mutation(s)
TPM3Disease-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 12823MONDO 0015736OMIM 161800OMIM 256030OMIM 609284OMIM 615731UMLS C5680452

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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