Proximal myotonic myopathy

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Proximal myotonic myopathy

ORPHA:606Disease

Also called Myotonic dystrophy type 2 · Proximal myotonic dystrophy · Ricker disease · Ricker syndrome

What it is

A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.

Key facts

Prevalence
1-9 / 100 000 (Europe)
Age of onset
Adolescent, Adult, Elderly
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

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

CNBPDisease-causing germline mutation(s)

ICD-10 codes

G71.1filed under a broader ICD-10 category — shared with 15 other rare diseases

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

GARD 9728MONDO 0011266OMIM 602668UMLS C2931689

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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