Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A kindred in which at least 11 individuals in 3 consecutive generations have continuous muscle movement, i.e., myokymia, and periodic ataxia, has been studied. Three patients, a 24-year-old woman, her 4-year-old son and her 27-year-old sister, have been studied in detail. The disorder is inherited as an autosomal-dominant trait and presents in early childhood with attacks of ataxia of 1-2 min in duration, with associated jerking movements of the head, arms and legs. Attacks are provoked by abrupt postural change, emotional stimulus, and caloric-vestibular stimulation. At the age of 12 years approximately, facial and extremity myokymia appears. Physical findings include large calves, normal muscle strength and widespread myokymia of face, hands, arms and legs with a hand posture resembling carpopedal spasm. EMG studies at rest showed continuous spontaneous activity of otherwise normal motor units. Nerve conduction velocities were normal. Gastrocnemius biopsy in 2 patients showed fiber type grouping and small angular fibers, and was consistent with denervation. Histographic analysis of the biopsies demonstrated enlargement of both fiber types, particularly of Type I fibers. These findings are consistent with chronic denervation and an abnormality of motor neuron population or firing. The myokymia described here is of interest not only because of its genetic association with a movement disorder, but also because the muscle findings support a peripheral basis for the muscle movements.
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PMID:Hereditary myokymia and periodic ataxia. 117 Feb 84

Ring-necked ducks (Aythya collaris) were administered a single lead shot by gastric intubation. At weekly intervals over a 7-week period, the birds were weighed and blood samples obtained for measurement of hematocrit, free erythrocyte protoporphyrin (FEP), blood lead and delta-aminolevulinic acid dehydratase (delta-ALAD) activity. The birds were fluoroscoped weekly to ensure that the pellets had been retained. Blood lead concentrations peaked 1 week after dosing at a concentration of 7.75 micrograms/ml and then fell to control levels by Week 4. FEP concentrations in the treated ducks also peaked 1 week after dosing at levels which were roughly 1200% of control concentrations. The return of FEP concentrations to normal paralleled blood lead. ALAD activity was inhibited by approximately 85% by Week 1; however, there was a gradual but steady recovery of ALAD activity through Week 7. Four of the treated birds died within 2 to 3 weeks of lead administration. Physical signs of lead toxicity were maximal 7 to 10 days postdosing and included ataxia, loss of body weight, impaction of the upper gastrointestinal tract, and bile green diarrhea. In surviving birds, overt signs of toxicity declined with time and all birds appeared normal by Week 7.
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PMID:Experimental lead toxicity in the ring-necked duck. 378 Jun 50

In a retrospective study 134 galactosaemic patients, born between 1955 and 1989 in the Federal Republic of Germany were traced and their long-term outcome evaluated. We investigated 83 galactosaemic patients (78 homozygotes, 5 compound heterozygotes) by clinical, psychometric and laboratory testing; 31 patients were evaluated by medical history, the remaining 20 patients had died due to sequelae of the underlying disease. In 48 out of 78 classical galactosaemia patients galactose-free therapy had been started before the 15th day, in 19 between days 15 and 56 and in 11 patients after the 56th day. Physical findings revealed that puberty was delayed in 1 out of 18 males and 6 out of 11 females. Neurological abnormalities included ataxia (n = 6), intention tremor (n = 11) and microcephaly (n = 10). Speech abnormalities were found in 43 out of 66 patients over 3 years of age and disturbance of visual perception and/or arithmetic deficits in 29. Intelligence declined with age, i.e., a DQ or IQ less than 85 was found in 4 out of 34 patients less than 6 years of age (12%), in 10 out of 18 between 7 and 12 years (56%) and in 20 out of 24 older than 12 years (83%). Metabolite patterns (RBC galactose-1-phosphate and UDP-galactose, plasma and urinary galactitol) did not correlate with DQ or IQ. Dietary compliance was good in almost all patients. Compound heterozygotes (n = 5) had normal mental and growth development and all laboratory parameters were in the normal range.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Long-term outcome in 134 patients with galactosaemia. 844 4