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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 .
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]
Bilateral frontoparietal polymicrogyria is a genetic disorder with autosomal recessive inheritance that causes a cortical malformation. Our brain has folds in the cortex to increase surface area called gyri and patients with polymicrogyria have an increase number of folds and smaller folds than usual. [1]
Smith-Kingsmore syndrome is a rare genetic disorder that is caused by gain-of-function mutation in a gene MTOR. The facial features of this syndrome are triangular face with a pointed chin, frontal bossing , hypertelorism , eyes with downslanting palpebral fissures , a flat nasal bridge , a long philtrum .
Treatment for those with lissencephaly is symptomatic and depends on the severity and locations of the brain malformations. Treatment is tailored towards the symptoms of the individual. Therapies for lissencephaly are to deal with the symptoms as the syndrome is congenital. Supportive care may be needed to help with comfort and nursing needs.
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days.
A group of state attorneys general on Thursday sued to halt Elon Musk's efforts to slash federal spending as head of President Donald Trump's new government efficiency agency, escalating the legal ...
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.