Total 37 clinical symptoms reported for Bethlem myopathy
Flexion contracture |
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Synonyms:Contracture; Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints; Joint contracture; Joint contractures |
Very frequent |
Muscle weakness |
Reduced strength of muscles.
Synonyms:Muscle weakness; Muscular weakness |
Very frequent |
Muscular dystrophy |
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
|
Very frequent |
Progressive proximal muscle weakness |
Lack of strength of the proximal muscles that becomes progressively more severe.
Synonyms:Muscle weakness, progressive, proximal |
Very frequent |
Reduced muscle collagen VI |
A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.
Synonyms:Reduced collagen 6 in muscle |
Very frequent |