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Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. [1] In DM, muscles are often unable to relax after contraction. [1] Other manifestations may include cataracts, intellectual disability and heart conduction problems.
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
The cardiac problems that occur with Emery–Dreifuss muscular dystrophy (EDMD) and myotonic muscular dystrophy may require a pacemaker. [29] The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine. [30]
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. [1]
Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. [3] [4] Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is normal ...
Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. [2] There are two types of Bethlem myopathy, based on which type of collagen is affected. [3] Bethlem myopathy 1 (BTHLM1) is caused by a mutation in one of the three genes coding for type VI collagen.
This category contains disorders of the muscular system This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision . Generally, diseases outlined within the ICD-10 codes M60-M63 within Chapter XIII: Diseases of the musculoskeletal system and connective tissue should ...
Calpainopathy is the most common type of autosomal recessive limb-girdle muscular dystrophy (LGMD). [2] It preferentially affects the muscles of the hip girdle and shoulder girdle. No disease modifying pharmaceuticals have been developed as of 2019, although physical therapy, lifestyle modification, and orthopedic surgery can address symptoms.