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The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy.
Duchenne muscular dystrophy is the most common type of muscular dystrophy, [3] with a median life expectancy of 27–31 years. [5] [11] However, with comprehensive care, some individuals may live into their 30s or 40s. [3] Duchenne muscular dystrophy is considerably rarer in females, occurring in approximately one in 50,000,000 live female ...
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.
Symptoms can be addressed with physical therapy, bracing, and reconstructive surgery such as surgical fixation of the scapula to the thorax. [11] FSHD affects up to 1 in 8,333 people, [2] putting it in the three most common muscular dystrophies with myotonic dystrophy and Duchenne muscular dystrophy. [12] [13] Prognosis is variable.
Emery–Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles. EDMD affects muscles used for movement (skeletal muscles), causing atrophy, weakness and contractures. It almost always affects the heart, causing abnormal rhythms, heart failure, or sudden ...
Muscular dystrophies, including Duchenne's and Becker's, are a large group of diseases, many of them hereditary or resulting from genetic mutations, where the muscle integrity is disrupted, they lead to progressive loss of strength and decreased life span. [17] Further causes of neuromuscular diseases are: Polymyositis. Inflammatory muscle ...
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 ...
The symptoms of Bethlem myopathy may overlap with other conditions including Emery–Dreifuss muscular dystrophy, congenital muscular dystrophies, limb girdle muscular dystrophies, FHL1-related myopathies (X-linked myopathy with postural muscle atrophy, reducing body myopathy, and scapuloperoneal myopathy), and some forms of Ehlers–Danlos ...