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Proximal myotonic myopathy
1 OMIM reference -
1 associated gene
15 connected diseases
3 signs/symptoms
Disease Type of connection
Blackfan-Diamond anemia
17q11 microdeletion syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Autosomal recessive limb-girdle muscular dystrophy type 2M
Brugada syndrome
Congenital muscular dystrophy without intellectual disability
Familial isolated dilated cardiomyopathy
Familial renal amyloidosis due to lysozyme variant
Muscle-eye-brain disease
Spinocerebellar ataxia type 19 / 22
Walker-Warburg syndrome
Weaver syndrome
Synonym(s):
- Myotonic dystrophy type 2
- Proximal myotonic dystrophy
- Ricker disease
- Ricker syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D020967
Gene symbol UniProt reference OMIM reference
CNBP P62633116955
Very frequent
- Autosomal dominant inheritance
- Cataract / lens opacification
- Myotonia