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Proximal myotonic myopathy

Disease Export to PDF
Name:
Proximal myotonic myopathy
Description:
A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
ORPHAcode:
606
Synonyms:
Myotonic dystrophy type 2
Proximal myotonic dystrophy
Ricker disease
Ricker syndrome
XREF(s):
Orphanet
MeSH
ICD-10
OMIM
Analyte(s):
CNBP
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14