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Treatment Physical therapy [ 1 ] Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients; [ 5 ] fifteen cases were first described on 1960 by Dr. Yukio Fukuyama .
In Euroasia CAPN3 mutations are the most common cause of LGMD, [15] however in northern Europe mutations in FKRP are also very common. [16] HMG CoA Reductase homozygous mutation leads to a form of LGMD that may respond to treatment with the downstream metabolite mevalonolactone in the cholesterol synthesis pathway.
Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan. [5]
Hecht Scott syndrome (also known as fibular aplasia–tibial campomelia–oligosyndactyly [FATCO] syndrome) is a rare genetic disease that causes congenital limb formation. [ citation needed ] The main characterisation is the aplasia or hypoplasia of bones (mainly the fibula or tibia ) of the limb. [ 1 ]
The treatment for PRES is supportive: removal of the cause or causes and treatment of any of the complications, such as anticonvulsants for seizures. PRES may be complicated by intracranial hemorrhage, but this is relatively rare. The majority of people recover fully, although some may experience some residual symptoms.
Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), [1] is a rare form of autosomal recessive congenital muscular dystrophy. [2]
The specific molecular mechanism that underpins this movement disorder is not well known. [2] However, most researchers suggest that it follows an autosomal dominant genetic inheritance pattern in which mutations in certain genes give rise to structural abnormalities in nervous system networks responsible for voluntary skeletal muscle movement, which, in turn, result in the functional movement ...
Eosinophilic fasciitis (/ ˌ iː ə ˌ s ɪ n ə ˈ f ɪ l ɪ k ˌ f æ ʃ i ˈ aɪ t ɪ s, ˌ iː oʊ-,-ˌ f æ s i-/ [2] [3]), also known as Shulman's syndrome, [4] is an inflammatory disease that affects the fascia, other connective tissues, surrounding muscles, blood vessels and nerves.