Thymidine Kinase 2 Deficiency
Disease Overview Summary Thymidine kinase 2 deficiency (TK2D), also known as "mitochondrial DNA depletion syndrome, myopathic form" or "mitochondrial DNA depletion syndrome-2", is a rare genetic disorder that mainly affects the muscles. The signs and symptoms may include muscle weakness of some degree, but the severity, age of onset and progression of the disease vary from person to ...
The genetic variability associated with LCCS contributes to a spectrum of clinical manifestations , with distinct types exhibiting unique features and severity. This highlights the importance of precise genetic testing and counseling for affected families.
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Muscular Dystrophy
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Familial paroxysmal kinesigenic dyskinesia
Familial paroxysmal kinesigenic dyskinesia may affect one or both sides of the body. The type of abnormal movement varies among affected individuals, even among members of the same family. In many people with familial paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura immediately precedes the episode.
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