Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is presented of Dejerine-Sottas disease in a 12-year-old boy in which clinical signs made diagnosis of Friedreich's ataxia seem plausible. Based on marked slowing of motor conduction velocity, the sural nerve biopsy findings of a hypertrophic neuropathy with hypo- and demyelination of the nerve fibres, as well as the clinical history, the diagnosis of Dejerine-Sottas disease was made. ABR examination suggested involvement of brain stem at the roots and/or nuclei of the eighth cranial nerve, without involvement of higher structures.
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PMID:A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement. A clinical, electrophysiological, otoneurologic, and ultrastructural study. 282 63

Dejerine-Sottas disease is classified as hereditary motor sensory neuropathy (HMSN) type III and shows evidence of Friedreich's ataxia, significant reduction in nerve conduction velocity (NCV), hypomyelination and demyelination of the nerve fibers. In this study, a 10-years-old girl with Dejerine-Sottas disease is presented in which routine clinical signs (ataxia and reduced NCV) seem with significant impairments of auditory brainstem pathway. It is indicated that pure tone audiometry, standard tympanometry (tympanometry and acoustic reflex), and otoacoustic emissions (OAEs) showed normal results in both ears (normal peripheral auditory system). In contrast, auditory brainstem responses (ABRs) indicated abnormal findings in absolute latencies of I, III, and V and inter-peak latencies of I-III and I-V. These findings suggested auditory brainstem involvement especially in low and mid regions.
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PMID:The role of auditory brainstem response in diagnosing auditory impairments of Dejerine-Sottas. 2244 98