Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two adults are described who developed a progressive neurological disorder more than 20 years after the onset of chronic fat malabsorption. The clinical features included dysarthria, cerebellar ataxia, and prominent proprioceptive loss with depressed or absent tendon reflexes. Serum vitamin E was undetectable in both cases. One patient improved clinically and electrophysiologically after oral therapy with vitamin E. The findings in these patients were similar to those in others recently reported with vitamin E deficiency associated with biliary atresia. Electrophysiological observations suggested that the human deficiency state parallels that found neuropathologically in vitamin E-deficient animals.
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PMID:Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome. 718 49

The classic phenotype of Friedreich ataxia is characterized by dysarthria, progressive limb and trunk ataxia, loss of reflexes, and gait disturbance with the onset of disease before the second decade. Homozygous trinucleotide repeat expansion of GAA in the FXN gene is found in 98% of patients. Two-5% of all patients have a repeat expansion on one allele and a point mutation on the other allele. Atypical phenotype is found in 25% of patients. A 10-year-old boy presented with congenital biliary atresia and progressive gait abnormality. His examination was significant for spastic gait, hyperreflexia, and sensory neuropathy. Genetic testing revealed a compound heterozygous mutation in the FXN gene. The absence of dysarthria and ataxia, retention of reflexes, absence of diabetes, and variable development of cardiomyopathy support a slow progression of disease with compound heterozygous mutation at G130V. Missense mutations are rare causes of Friedreich ataxia that can only be detected by sequencing of the FXN gene. Sequencing of the FXN gene is essential to make an early diagnosis when there is an atypical phenotype.
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PMID:Atypical Presentation for Friedreich Ataxia in a Child. 2630 74