Hearing lossGene: DMD
Created: 9 Feb 2016, 10:06 a.m.
Created: 7 Feb 2016, 7:06 p.m.
Created: 7 Feb 2016, 3:41 p.m.
Created: 7 Feb 2016, 9:23 a.m.
Created: 7 Feb 2016, 8:56 a.m.
Mode of inheritance
#300376:Becker muscular dystrophy[Cardiomyopathy, late onset; Calf and thigh cramping muscle painsCalf muscle pseudohypertrophyWeakness; Hyporeflexia; High serum creatine kinaseAbnormal electrocardiogramAbnormal dystrophin on muscle biopsy]; #302045:Cardiomyopathy, dilated, 3B[Dilated cardiomyopathy; Second decade onset in males; Late onset in heterozygous females]; #310200:Duchenne muscular dystrophy[Red-green color defect in many patients with deletion downstream of exon 30; Cardiomyopathy, dilatedCongestive heart failure; Pulmonary hypoventilationRespiratory failure; Increased lordosisScoliosis; Flexion contractures; Calf muscle pseudohypertrophyWeakness; Mental retardation, mild (20% have more severe mental retardation); HypotoniaWaddling gaitHyporeflexiaPositive Gowers sign; High serum creatine kinaseAbnormal electrocardiogramAbsent dystrophin on muscle biopsy]
DMD was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert