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ORPHA:97240Disease
What it is
Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Unknown
- 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
Very common80–99%
21- Autophagic vacuoles
- Axial muscle weakness
- Decreased fetal movement
- Difficulty climbing stairs
- Distal muscle weakness
- Elevated circulating creatine kinase concentration
- EMG: myopathic abnormalities
- Facial palsy
- Global developmental delay
- Gowers sign
- Handgrip myotonia
- Limb-girdle muscular dystrophy
- Muscle fiber splitting
- Myofibrillar myopathy
- Neck muscle weakness
- Nemaline bodies
- Neonatal hypotonia
- Proximal muscle weakness
- Rimmed vacuoles
- Torticollis
- Waddling gait
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.
Gene
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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