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ORPHA:610Disease
Also called Bethlem myopathy · LGMD D5 collagen 6-related dystrophy · LGMD D5 collagen VI-related dystrophy · LGMD R22 collagen 6-related dystrophy · LGMD R22 collagen VI-related dystrophy · Mild form of COL6-related dystrophy · Mild form of collagen VI-related dystrophy
What it is
A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood.
Key facts
- Prevalence
- 1-9 / 1 000 000 (United Kingdom)
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal dominant, Autosomal recessive
- 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%
6Common30–79%
12- Ankle flexion contracture
- Camptodactyly of finger
- Distal muscle weakness
- Elevated circulating creatine kinase concentration
- Gait disturbance
- Increased muscle lipid content
- Interphalangeal joint contracture of finger
- Limb-girdle muscle weakness
- Multiple joint contractures
- Neck muscle weakness
- Quadriceps muscle weakness
- Wrist flexion contracture
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.
Genes
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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