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In terms of the signs/symptoms of Fukuyama congenital muscular dystrophy it is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development. Initial symptoms of FCMD present in early infancy as decreased ability to feed. Marked differences in facial appearance occur due to decreased muscle tone.
[12] [13] However, symptoms unique to MEB include glaucoma, atrophy of the optic nerves, and retinal generation. [9] The least severe phenotype of dystroglycanopathies is CMD type 1c (MDC1C), caused by mutations in the FKRP and the LARGE gene, with a phenotype similar to MEB and WWS. [15] MDC1C also includes Limb-Girdle muscular dystrophy. [12 ...
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]
Sudden unexplained death in childhood (SUDC) is the death of a child over the age of 12 months which remains unexplained after a thorough investigation and autopsy. There has not been enough research to identify risk factors, common characteristics, or prevention strategies for SUDC. SUDC is similar in concept to sudden infant death syndrome ...
As not all ROHHAD patients develop the same symptoms, treatment plans vary between patients. Proper treatment of hypothalamic dysfunction and hypoventilation is the most critical aspect of ROHHAD management, as these symptoms have the greatest ability to cause death or behavioral problems if left uncontrolled. [5]
Clinical features depend on the molecular pathology of the particular CDG subtype. Common manifestations include ataxia; seizures; retinopathy; liver disease; coagulopathies; failure to thrive (FTT); dysmorphic features (e.g., inverted nipples and subcutaneous fat pads); pericardial effusion, skeletal abnormalities, and hypotonia.
Fan death; Fanconi anemia type 1; Fanconi anemia type 2; Fanconi anemia type 3; Fanconi–Bickel syndrome; Fanconi ichthyosis dysmorphism; Fanconi like syndrome; Fanconi pancytopenia; Fanconi syndrome; Fanconi syndrome, renal, with nephrocalcinosis and renal stones; Fanconi anemia; Fara–Chlupackova syndrome; Farber's disease; Farmer's lung ...
Triple-A syndrome or AAA syndrome is a rare autosomal recessive congenital disorder. In most cases, there is no family history of AAA syndrome. [ 2 ] The syndrome was first identified by Jeremy Allgrove and colleagues in 1978; since then just over 100 cases have been reported. [ 3 ]