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)

Much confusion and disagreement exists regarding the classification and characteristics of inherited disorders manifesting neurogenic muscular atrophy. Many authors consider Charcot-Marie-Tooth syndrome (CMTS) and Roussy Levy syndrome (RLS) forme fruste or variants of Friedreich's ataxia (FA). Familial kyphoscoliosis has often been described in FA and RLS but not with CMTS. The purpose of this paper is to present detailed clinical and laboratory findings in a family with three cases of Scheuermann's kyphoscoliosis and CMTS in three generations. In all cases Scheuermann's kyphoscoliosis was associated with pes cavus, markedly diminished vibratory and position sensation in the lower extremities, absent deep tendon reflexes and muscular atrophy, predominantly of the distal muscles. Fine rhythmic tremor of outstretched hands and positive Romberg sign were present in one case only. Serum creating phosphokinase was elevated in two cases. Motor nerve conduction studies revealed impaired function in the median, ulnar, tibial and peroneal nerves. Sensory nerve conduction wal also impaired in median and ulnar nerves. There was evidence of left ventricular hypertrophy in one case only. The nosology and relationship between CMTS, RLS and FA are discussed.
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PMID:Scheuermann's kyphoscoliosis associated with Charcot-Marie-Tooth syndrome. 94 37

The 50 patients in this survey were classified by a panel of neurologists into 4 clinical sub-groups: Group Ia ("typical" Friedreich's ataxia, complete picture), Group Ib ("typical" Friedreich's ataxia, incomplete picture), Group IIa ("atypical" Frriedreich's ataxia, possible recessive Roussy-Levy syndrome), Group IIb (heterogeneous ataxias). The clinical symptoms and signs were analyzed for each of these groups. A constellation of signs constantly present in Friedreich's ataxia and obligatory for diagnosis was described. Other important symptoms, such as the Babinski sign, kyphoscoliosis and pes cavus were found to be progressive, but not essential for the diagnosis at any given time. Finally, a host of other symptoms can only be called accessory. The progression of scoliosis was found to be an important tool in the differential diagnosis of ataxias. Our study also indicates, in contrast to the opinion of some authors, that absent deep tendon reflexes in the lower limbs and early dysarthria are essential in "typical" Friedreich's ataxia.
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PMID:Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. 108 79

Employing the clinical signs of diseases the authors compared characteristics of different hereditary ataxias (Friedreich's ataxia, familial spastic paraplegia, Marie's disease, olivopontocerebellar atrophy, Roussy-Levy syndrome, and Charcot-Marie neural amyotrophy). It is emphasized that clinico-genealogical examination is essential for the identification of the nosological form of the disease.
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PMID:[Clinical characteristics of hereditary ataxia]. 338 7

The authors describe the results of electrophoresis studies of 111 cerebrospinal fluids from 110 patients with various spinocerebellar degenerative diseases (58 cases of Friedreich's disease, 14 of Pierre-Marie's ataxia, 12 of Strumpell-Lorrain paraplegia, 23 cerebellar atrophies, and 4 cases of Roussy-Levy disease). The degenerative profile of the electrophoresis findings were characterized by an overall reduction in CSF proteins, an increase in pre-albumin, and a reduction in gammaglobulin, and this was noted in 82 cases (73.8 p. 100). Low levels (less than or equal to 0.17 g/l) of proteins were observed in 19 cases (17.1 p. 100), and increased pre-albumin in 43 cases (38.7 p. 100). Reduced gammaglobulin was present in 20 cases (18.0 p. 100), and the cerebrospinal fluid was normal in only 29 cases (26.1 p. 100). These modifications could result from a particular type of physiopathological process of cell degeneration in the nervous system.
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PMID:[Degenerative changes in cerebrospinal fluid electrophoresis recordings during spinocerebellar hereditary degenerative disorders. A study of 111 cases (author's transl)]. 615 84