Search results
Results from the WOW.Com Content Network
Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. [7] It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. [ 8 ]
Anderson and colleagues from St Thomas' Hospital, London, were the first to mention a case with possible clinical findings of LEMS in 1953, [11] but Edward H. Lambert, Lee Eaton, and E.D. Rooke at the Mayo Clinic were the first physicians to substantially describe the clinical and electrophysiological findings of the disease in 1956.
Calpainopathy is the most common type of autosomal recessive limb-girdle muscular dystrophy (LGMD). [2] It preferentially affects the muscles of the hip girdle and shoulder girdle. No disease modifying pharmaceuticals have been developed as of 2019, although physical therapy, lifestyle modification, and orthopedic surgery can address symptoms.
Limb girdle syndrome is any of several distinct medical conditions including polymyositis, myopathy associated with endocrine disease, metabolic myopathy, drug-induced myopathy and limb-girdle muscular dystrophy. [citation needed] Limb girdle syndrome is weakness located and concentrated around the proximal limb muscles.
Scoliosis of the thoracic and lumbar regions includes side deviation and rotation of the vertebrae. There are two types of LAMA2 muscular dystrophy (LAMA2-MD). The first type is the congenital type known as early onset LAMA2 congenital muscular dystrophy type 1A or MDC1A.
Muscular dystrophy (e.g., limb girdle muscular dystrophy) must be considered as well. [citation needed] sIBM can be mistaken for physical deconditioning. [1] Hereditary myopathies can mimic sIBM, both in signs and symptoms and in the appearance of muscle biopsies.
Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. [2] There are two types of Bethlem myopathy, based on which type of collagen is affected. [3] Bethlem myopathy 1 (BTHLM1) is caused by a mutation in one of the three genes coding for type VI collagen.
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.