I have COL6A3. I do not know what that means. My sx involve: Lots of joint pain, muscle pain, and numbness.
It
July 16
Bethlem myopathy and Limb-Girdle Muscular Dystrophy (LGMD) are actually two separate forms of muscular dystrophy, so they are not the same classification. Bethlem myopathy belongs to a group called collagen VI-related dystrophies (COL6-RDs), caused by mutations in genes that affect the collagen type VI protein. It is Show Full Answer
Bethlem myopathy and Limb-Girdle Muscular Dystrophy (LGMD) are actually two separate forms of muscular dystrophy, so they are not the same classification. Bethlem myopathy belongs to a group called collagen VI-related dystrophies (COL6-RDs), caused by mutations in genes that affect the collagen type VI protein. It is considered the mildest form within that group.
LGMD, on the other hand, is caused by mutations affecting proteins essential for muscle cell membrane function, and has 33 different subtypes grouped by inheritance pattern and the specific protein involved.
While both conditions cause progressive muscle weakness, here's what sets them apart:
- Bethlem myopathy primarily involves muscle weakness, joint stiffness, contractures, and sometimes skin and breathing issues
- LGMD primarily weakens muscles around the hips and shoulders (proximal muscles), with distal muscles usually unaffected
It's always worth confirming your specific subtype with your neurologist, as the distinction matters for understanding your symptoms and management options.
July 16
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