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Start free with EleplanMitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
ORPHA:502423Disease
Also called Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
What it is
A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adult, Infancy
- Inheritance
- Autosomal dominant
- 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
Common30–79%
43- Abnormality of globe size
- Anxiety
- Cerebellar hypoplasia
- Delayed skeletal maturation
- Delayed speech and language development
- Depression
- Dysdiadochokinesis
- Dysmetria
- EMG: myopathic abnormalities
- Gait disturbance
- Generalized hypotonia
- Generalized joint hypermobility
- Gowers sign
- Growth delay
- Hearing impairment
- High palate
- Hyperintensity of cerebral white matter on MRI
- Hyperthyroidism
- Hyporeflexia
- Hypotelorism
- Increased circulating prolactin concentration
- Increased intramyocellular lipid droplets
- Increased muscle glycogen content
- Increased variability in muscle fiber diameter
- Intellectual disability, mild
- Lipoma
- Long face
- Micrognathia
- Mildly elevated creatine kinase
- Mitochondrial myopathyDiagnostic criterion
- Motor delay
- Myalgia
- Pectus excavatum
- Pes cavus
- Primary amenorrhea
- Progressive cerebellar ataxiaDiagnostic criterion
- Proximal muscle weakness
- Scoliosis
- Short stature
- Somatic sensory dysfunction
- Thick hair
- Tremor
- Weakness of facial musculature
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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