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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.
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 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 ...
Generally, diseases outlined within the ICD-10 codes G70-G73 within Chapter VI: Diseases of the nervous system should be included in this category. Subcategories This category has the following 3 subcategories, out of 3 total.
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]
Classic distal muscular dystrophies Type Eponym Inheritance OMIM Gene Locus Gene also implicated in: Late adult-onset type 1 [4] Welander AD [5] 604454: TIA1 [6] 2p13 [7] Late adult-onset type 2a [5] - Finnish (tibial) Udd AD [5] 600334: TTN [5] 2q31.2 Late adult-onset type 2b [5] Markesbery–Griggs AD [8] ZASP [5] 10q23.2 Early adult-onset ...
(G71.0) Dystrophies (or muscular dystrophies) are a subgroup of myopathies characterized by muscle degeneration and regeneration. Clinically, muscular dystrophies are typically progressive, because the muscles' ability to regenerate is eventually lost, leading to progressive weakness, often leading to use of a wheelchair, and eventually death, usually related to respiratory weakness.
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 ...
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