Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Metabolic diseases of the nervous system vary considerably in their clinical and pathological aspects. In neurological presentations of these disorders dominate mental retardation and epileptic syndrome. We have studied 27 patients of age from 3 months to 3 years: PKU -- 15 cases; homocystinuria -- 4; hyper-prolinemia -- 1; methylmalonic acidemia -- 5 and combined disorders -- 2. Epileptic syndrome was revealed in 21 patients, mental retardation in 1, spasticity in 5 and ataxia in 1 patient. Epileptic syndrome was presented with generalized seizures (grand mal -- 6 cases, myoclonic absences -- 13 cases) and partial seizures (simple motor -- 2 cases). Investigations did not found reliable correlations between certain forms of enzymophaties and EEG patterns. Patients were treated by pathogenic (dietary management with protein-modified diet and vitamin therapy) and symptomatic (anticonvulsants) treatment. We have achieved the positive therapeutic effect by pathogenic and anticonvulsive treatment in 11 patients. All these patients were from the first group (1-3 year). The best outcome was observed in the cases of the early diagnosed PKU. The most severe mental retardation and resistant epilepsy were revealed in patients with combined disorders of metabolism and vitamin-non-responsive forms of MMA and HCS.
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PMID:[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system]. 1636 68

Phenylketonuria (PKU) is a disorder characterized by several biochemical mechanisms which may impair the brain functions in PKU, leading to neurological problems. Our case report concerns a 19 year-old man with phenylketonuria who was evaluated with the onset of stiffness following the abandonment of the phenylalanine-restricted diet. He was assessed with grade-4 spasticity according to Modified Aschworth scale. The deep tendon reflexes had increased and the plantar reflexes were positive. Knee extensions were limited due to the shortening of the hamstring muscles. Serum phenylalanine concentration was elevated and plasma vitamin B12 level was low. Cranial magnetic resonance imaging scan revealed demyelinization area in periventricular deep white matter. We administered a phenylalanine-restricted diet and a rehabilitation program. Following the treatment, spasticity was reduced to grade-1 and patient could walk without aid. This case shows that, the combination of diet, medication and a rehabilitation program is an effective treatment model on adult PKU with upper motor neuron involvement.
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PMID:The rehabilitation programme of an adult phenylketonuria with upper motor neuron involvement. 2002 64