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)

This study investigates the long-term neuropsychiatric manifestations of single or combined chemicals: manganese; zinc phosphide; lead, mercury, and TNT; and pesticides among exposed industrial workers. We found that 75% of the exposed subjects as a whole and 50% of those exposed to each of Zinc phosphide and pesticides presented with more than one neuropsychiatric symptoms or signs. The main signs were mask faces, hyporeflexia, hyperreflexia, peripheral neuropathy, static tremors, radiculopathy, muscle weakness, mental changes, fasciculations and tremors, wasting, hypotonia, abnormal deep reflexes, and sensory hyposthesia. Neurological manifestations were confirmed by electromyography and their severity was related to the duration of exposure and confirmed as well by electroencephalography. These results are discussed and their implications high-lighted.
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PMID:Neurobehavioral changes among workers in some chemical industries in Egypt. 824 23

The human cerebellum is composed of 2 hemispheres and a narrow medial section (vermis). Three pairs of dense fiber bundles (peduncles) connect the cerebellum to the brain. The cerebellum possesses widespread outgoing connections. Insult can result in neurologic deficits, including ataxia, hypotonia, dysarthria, and ocular motility problems. It is particularly susceptible to toxic effects of metabolic and medicinal insults. The cerebellum is potentially sensitive to alcohol, drug exposure, illicit drugs, and environmental poisons (mercury, lead, manganese, and toluene/benzene derivatives). The astute clinician must be aware of the multiple potential factors that can adversely affect cerebellar function.
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PMID:Toxic-metabolic, nutritional, and medicinal-induced disorders of cerebellum. 2543 88

Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the importance of Mn and Zn for development. Here we describe an autosomal-recessive disorder in six individuals from the Hutterite community and in an unrelated Egyptian sibpair; the disorder is characterized by intellectual disability, developmental delay, hypotonia, strabismus, cerebellar atrophy, and variable short stature. Exome sequencing in one affected Hutterite individual and the Egyptian family identified the same homozygous variant, c.112G>C (p.Gly38Arg), affecting a conserved residue of SLC39A8. The affected Hutterite and Egyptian individuals did not share an extended common haplotype, suggesting that the mutation arose independently. SLC39A8 is a member of the solute carrier gene family known to import Mn, Zn, and other divalent cations across the plasma membrane. Evaluation of these two metal ions in the affected individuals revealed variably low levels of Mn and Zn in blood and elevated levels in urine, indicating renal wasting. Our findings identify a human Mn and Zn transporter deficiency syndrome linked to SLC39A8, providing insight into the roles of Mn and Zn homeostasis in human health and development.
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PMID:Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. 2663 78

Manganese (Mn) is an essential element in trace quantity but large amounts are toxic. A novel hereditary disorder encompassing high blood Mn levels, dystonia, polycythemia, distinctive T1 hyperintense signals in the basal ganglia on magnetic resonance imaging (MRI) brain, and chronic liver disease was recently described. The disorder is caused by mutations in a Mn transporter encoding gene SLC30A10. We are reporting the clinical features of this rare disorder in two Saudi brothers. The older brother presented with progressive gait difficulties, hypotonia, intermittent dystonia, polycythemia, and characteristic T1-hyperintense lesions on MRI brain. SLC30A10 sequencing identified a novel missense mutation. The younger brother was identified in presymptomatic phase on family screening. Chelation therapy with disodium calcium edetate (ethylenediaminetetraacetic acid, EDTA) led to stabilization of gait, reduction in Mn levels, and resolution of polycythemia. We wish to highlight the atypical neurologic presentation, a novel missense mutation, and beneficial effect of EDTA in this rare disease.
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PMID:Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia. 2917 35