Diagnosis is confirmed by genetic testing. DM is typically inherited, following an autosomal dominant inheritance pattern, and it generally worsens with each generation. Mutation of CNBP gene causes type 2 (DM2). Mutation of the DMPK gene causes myotonic dystrophy type 1 (DM1). Myotonic dystrophy is caused by a genetic mutation in one of two genes. While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s. In men, there may be early balding and an inability to father children. Other manifestations may include cataracts, intellectual disability and heart conduction problems. In DM, muscles are often unable to relax after contraction. Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. Mexiletine, carbamazepine, tricyclic antidepressants, nonsteroidal anti inflammatory drugs Genetic disorder ( autosomal-dominant) īraces, wheelchair, pacemakers, non invasive positive pressure ventilation Muscle loss, weakness, muscles which contract and are unable to relax Ĭataracts, intellectual disability, heart conduction problems Neurology, neuromuscular medicine, physical medicine and rehabilitation, medical genetics, pediatrics Dystrophia myotonica, myotonia atrophica, myotonia dystrophica, Curschmann–Batten–Steinert syndromeĪreas of body affected in myotonic dystrophy, types 1 and 2, colored in red
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |