Bethlem myopathy
Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a mutation in one of the three genes coding for type VI collagen.[1] These include COL6A1, COL6A2, and COL6A3.[2]
![](../I/m/Autosomal_dominant_-_en.svg.png)
Bethlem myopathy has an autosomal dominant pattern of
inheritance.
Presentation
The onset of this disease can begin even before birth but is more commonly in childhood or later into adult life. The progression is slow, with symptoms of weakness and walking difficulties sometimes not presenting until middle age. Early symptoms include Gower's sign ("climbing" up the thighs with the hands when rising from the floor) and tiptoe-walking caused by the beginning of contractures.
Bethlem myopathy affects about 1 in 200,000 people. Contractures of the fingers are a typical symptom of Bethlem myopathy but not of the related Ullrich's myopathy (which does include contractures of arms and legs, as does Bethlem myopathy). Serum creatine kinase is elevated in Bethlem myopathy, as there is ongoing muscle cell death. Patients with Bethlem myopathy may expect a normal life span and continued mobility into adulthood. There is currently no cure for this disorder, but the contractures of the legs can be alleviated with heel-cord surgery followed by bracing and regular physical therapy. Repeated surgeries to lengthen the heel cords may be needed as the child grows to adulthood.[1]
References
External links
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| Neuromuscular- junction disease | |
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| Myopathy/ congenital myopathy | |
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| Description |
- Anatomy
- head
- neck
- arms
- chest and back
- diaphragm
- abdomen
- genital area
- legs
- Muscle tissue
- Physiology
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| Disease |
- Myopathy
- Soft tissue
- Connective tissue
- Congenital
- abdomen
- muscular dystrophy
- Neoplasms and cancer
- Injury
- Symptoms and signs
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| Treatment |
- Procedures
- Drugs
- anti-inflammatory
- muscle relaxants
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Genetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin) |
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| Collagen disease | COL1: | |
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| COL2: | |
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| COL3: | |
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| COL4: | |
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| COL5: | |
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| COL6: | |
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| COL7: | |
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| COL8: | |
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| COL9: | |
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| COL10: | |
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| COL11: | |
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| COL17: | |
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| Laminin | |
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| Other | |
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| see also fibrous proteins
Index of cells |
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| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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