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Myotonic dystrophy (DM) is a genetic condition that is inherited in an autosomal dominant pattern, meaning each child of an affected individual has a 50% chance of inheriting the disease. The mutation involves satellite DNA , which is tandemly repeated sequences of DNA that do not code for a protein.
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 ...
Myotonin-protein kinase (MT-PK) also known as myotonic dystrophy protein kinase (MDPK) or dystrophia myotonica protein kinase (DMPK) is an enzyme that in humans is encoded by the DMPK gene. [5] [6] [7] The DMPK gene product is a Ser/Thr protein kinase homologous to the MRCK p21-activated kinases and Rho kinase family. [8]
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 ] Low-intensity, assisted exercises, dynamic exercise training, or assisted bicycle training of the arms and legs during a 24-week trial significantly delayed the functional loss ...
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]
Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be autosomal dominant neuromuscular disease or autosomal recessive. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be ...
Distal muscular dystrophy: Red depicts the preferentially affected areas in distal myopathy. ... [10] [11] 606768: DMAT can be considered a variant of Miyoshi.
The minimum prevalence of limb–girdle muscular dystrophy, as a group, likely ranges from 2.27–10 per 100,000 (1:44,000 to 1:10,000). [6] LGMD is the fourth most common muscular dystrophy, after the dystrophinopathies, myotonic dystrophies, and facioscapulohumeral muscular dystrophy. [26]