Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Menkes' kinky hair disease (trichopoliodystrophy) is a rare inherited X-linked recessive disease with an incidence of about 1:35,000, and is rare reported previously in Taiwan. We present 2 cases with typical features including sparse, coarse and stubby, kinky hair, depigmented skin, pudgy face, arrow-shaped upper lip, hypotonia, Babinski signs bilaterally, profound psychomotor retardation with disability of head control or rolling over, and poorly controlled myoclonic jerks. Both were male infants with a family history of male relatives died in early childhood. Their hairs showed pili torti and trichorrhexis nodosa microscopically. Serum levels of copper were 14 ug/dl and 20 ug/dl. Ceruloplasmin levels were 10.4 mg/dl and less than 7 mg/dl. Their EEG showed abnormal generalized brain polyspike waves. Brain CT scan showed generalized brain atrophy, and chronic subdural hematoma in case 1. Bilateral urinary bladder diverticula and spurs over the distal ends of the femoral diaphysis were found in case 1. Normal urinary bladder was found in case 2 initially, then diverticula developed one year later. They are currently on anticonvulsants (Rivotril) therapy. Repeated attacks of respiratory infection, myoclonic seizure, hypotonia, and static neurologic developmental status are noted.
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PMID:[Menkes' kinky hair disease: report of 2 cases]. 217 69

We report on a family with a 12-year-old boy who suffered from a maternally inherited syndrome characterized by a combination of sensorineural hearing loss, myoclonus epilepsy, ataxia, severe psychomotor retardation, short stature, and diabetes mellitus. First, he showed a muscular hypotonia with hearing loss; later, he developed a myoclonus epilepsy, growth failure, and severe psychomotor retardation. At the age of 10 years, he developed diabetes mellitus. After initiation of combined ubiquinone and vitamin C treatment, we observed a progression in psychomotor development. Lactate and pyruvate levels in blood and cerebrospinal fluid were normal. No ragged red fibers or ultrastructural abnormalities were seen in a skeletal muscle biopsy. Biochemical assays of respiratory chain complex activities revealed decreased activity of complexes I and IV. By sequence analysis of mitochondrial DNA encoding transfer ribonucleic acids (RNAs), a homoplasmic T to C substitution at nucleotide position 7512 was found affecting a highly conserved base pair in the tRNA(ser(UCN)) acceptor stem. Asymptomatic family members of the maternal line were heteroplasmic for the mutation in blood samples. Analysis of mitochondrial DNA in patients with hearing loss and myoclonus epilepsy is recommended, even in the absence of laboratory findings. Therapeutically, ubiquinone and antioxidants can be beneficial.
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PMID:Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy. 2198 53

Nonketotic hyperglycinemia is an autosomal recessive disorder of glycine metabolism. Patients generally present in the neonatal period with lethargy, feeding difficulty, hypotonia, apnea, poorly controlled convulsions, and coma. Myoclonic seizures and burst suppression pattern on electroencephalography are major findings of disease, but development of hydrocephalus is not an expected finding. The present case is that of an infant with acquired hydrocephalus, psychomotor retardation, and myoclonic seizures in whom the final diagnosis was nonketotic hyperglycinemia.
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PMID:Nonketotic hyperglycinemia and acquired hydrocephalus. 1913 33