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Start free with EleplanMultiminicore myopathy
ORPHA:598Disease
Also called MmD · Multiminicore disease
What it is
A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.
Key facts
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Common30–79%
14- Abnormal muscle fiber morphology
- EMG abnormality
- Failure to thrive
- Generalized hypotonia
- Joint hypermobility
- Joint stiffness
- Proximal muscle weakness in lower limbs
- Proximal muscle weakness in upper limbs
- Respiratory insufficiency
- Respiratory insufficiency due to muscle weaknessDiagnostic criterion
- ScoliosisDiagnostic criterion
- Short stature
- Spinal rigidityDiagnostic criterion
- Strabismus
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 reported in subtypes
Orphanet records these genes on 3 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.
ICD-10 codes
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
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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