Differential diagnosis of cerebral palsy – 5 Genetic disorders

  Differential Diagnosis of Cerebral Palsy – Genetic Disorders Some genetic disorders have movement disorders, postural abnormalities, and altered muscle tone and are easily misdiagnosed as cerebral palsy, such as ankylosing muscular dystrophy, Duchenne muscular dystrophy, trisomy 21, infantile progressive spinal muscular atrophy, arginase deficiency, heterozygous cerebral leukodystrophy, adrenoleukodystrophy, familial (hereditary) spastic paraplegia, dopa-sensitive dystonia, glutaric aciduria type I, pyruvate dehydrogenase complex deficiency, Rett syndrome, neuronal waxy lipofuscinosis, familial cerebral leukodystrophy/congenital extracortical axonal aplasia, ataxia capillaris, GM1 gangliosidosis type I, spinal cerebellar ataxia, Niemann-Pick disease type C, mitochondrial myopathy, and anterior insular cap syndrome.