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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Besides the spinal bone and foot deformations which are well known in Friedreich's disease, attention is drawn to deformations of the maxillodental system, the state of which was previously not studied. There was a pathology of bite in 16 of the 24 patients with Friedreich's familial ataxia. As a rule, these anomalies were combined with other bone deformations. In 2 families where several patients were examined there was a similar pathology of bite. A study of 24 patients and an examinations of a control group consisting of 151 individuals allows a conclusion that in Friedreich's disease pathology of bite is encountered almost as frequently as deformations of the spine and foot.
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PMID:[Bite anomalies in familial Friedreich's ataxia]. 72 55

A preliminary report is presented of the audiovestibular findings in 16 cases of typical Friedreich ataxia. Many ENG abnormalities of the central type were found, the most frequent being square waves, ocular dysmetria, and disorganized pursuit of the pendulum. The other abnormal findings were less frequent or less specific. Peripheral vestibular and auditory impairment were not the rule. Eventually, the electronystagmogram could become an early paraclinical screening test of Friedreich's disease.
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PMID:[Audiovestibular study in Friedreich's ataxia]. 73 74

Cranial CT in 39 patients (23 belonged to 8 families) with four different groups of hereditary ataxia (HA) showed mainly three combinations of atrophic findings: (1) cerebellar ataxia (CA, n = 17) had marked atrophy of the cerebellum and/or the brain stem combined with moderate cerebral atrophy; (2) an intermediate group consisting of hereditary spastic paraplegia (HSP, n = 10) and Friedreich's ataxia (FA, n = 7), both with moderate infra- and supratentorial atrophy; (3) atrophy was hardly demonstrated in the group of Charcot-Marie-Tooth disease (CMT, n = 5). HA cases with atrophy could be distinguished from multiple sclerosis (MS) by CT.
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PMID:Computed tomography in hereditary ataxias. 74 5

This overview was designed primarily to provide examples of hereditary metabolic disorders that result in nervous system dysfunction. Some of the more frequently encountered pathological conditions were selected in order to illustrate the mechanisms and the consequences of the metabolic derangements. Therapeutic approaches for the correction of such disorders are discussed where it appears appropriate. In time the precise etiology for those eponymous genetic conditions with stereotyped pathologic and clinical manifestations such as Huntington's chorea (79) and Friedreich's ataxia (80) will be disclosed. It is possible that some forms of epilepsy (81) and perhaps certain psychiatric disturbances (82) will be shown to be inherited metabolic disorders. As our knowledge and skill increase, this logic may eventually be extended to biochemical explanations of variation in individual skills and talents. Certainly innovative extrapolation and novel research directions will be necessary to provide an understanding of these differences. However, it is axiomatic in research that each useful contribution serves largely as a point of departure for further accomplishments.
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PMID:Inherited metabolic diseases of the nervous system. 82 14

Electromography, motor, sensory and mixed nerve conduction velocity, and H reflex were studied in four patients with ataxia-telangiectasia. The earliest and most striking electrophysiologial finding was the reduced amplitude of evoked nerve potentials. In the oldest patient, findings suggestive of spinal atrophy and mild reduction of the motor and sensory nerve conduction velocities were found. Reduced amplitude in the evoked nerve potentials can be observed without clinical evidence of peripheral neuropathy. Electrophysiological abnormalities are more severe in older than in young patients. Sural nerve biopsy in one patient showed mild changes: loss of the largest myelinated fibres and demyelination of some fibres. The ratio between maximum conduction velocity of the sural nerve and the diameter of the largest fibres was in the lower limits of the normal range. The resemblance between electrophysiological abnormalities in Friedreich's ataxia and ataxia-telangiectasia is discussed.
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PMID:Abnormalities in sensory and mixed evoked potentials in ataxia-telangiectasia. 84 6

This study presents the findings from a neuroradiological investigation of the cervical spinal canal in a number of diseases of the nervous system. It concerns the measurement of the sagittal and transversal diameters of the spinal canal at levels C3 through C6. The material for this investigation was made up of two main groups: A) 400 controls and B) 110 patients. The second group consisted of the following: 1) 20 patients suffering from Friedreich's Ataxia, 2) 14 patients with Steinert's disease, 3) 44 patients with lateral amyotrophic sclerosis, 4) 14 patients suffering from Charcot-Marie-Tooth's disease, and 5) 18 patients with muscular dystrophy. The results are as follow: 1) In patients with Friedreich's Ataxia both the sagittal and transversal diameters are smaller than those of the controls. 2) On the contrary, in Charcot-Marie-Tooth's disease the sagittal diameter is larger than the controls. 3) The transversal diameter in patients with muscular dystrophy is smaller than the controls and 4) the sagittal diameter of the vertebral canal decreases from the top (C3) downwards (C6) while the transversal diameter increases.
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PMID:[Radiological study of the cervical spinal column in some neurological degenerative diseases (author's transl)]. 85 12

Motor and sensory conduction studies have been performed in 10 patients from three families with uncomplicated familial spastic paraplegia whose ages ranged from 4 to 41 years. In all cases the values fell within the control range. The findings may be contrasted with those in Friedreich's ataxia and some other spinocerebellar degenerations in which peripheral nerve abnormalities are present.
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PMID:Electrophysiological studies in familial spastic paraplegia. 90 76

Friedreich's disease occurring in 4 male siblings in a sibship of seven caused cardiac and neurological abnormalities and one twin of an affected member died in cardiac failure; at autopsy characteristic pathological features of Friedreich's disease were demonstrated in the nervous system and heart. One female sibling had a patent ductus arteriosus which was treated surgically and a continuous murmur was present in another sister but cardiac catheterization in childhood had been normal.
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PMID:Friedreich's disease--a family study. 92 20

A study of 7 cases of Charcot-Marie-Tooth disease associated with a dyskinesia resembling benign essential tremor is presented. In 4 patients, the family history strongly suggested an autosomal mode of transmission, 2 cases were sporadic without an established genetic pattern and 1 was probably recessive. The distal parts of the upper and lower limbs showed imparied muscle strength with slight or no atrophy in 4 patients and conspicuous weakness and wasting in another 2. One patient was a chairbound. Although essential tremor and the tremor seen in these patients are clinically (phenotypically) similar it seems possible that they result from two different genotypes. Further, it seems that cases with Charcot-Marie-Tooth disease and "essential tremor" are not the result of the association of two separate dominant characteristics which are generally inherited as mendelian dominant traits. In spite of the diversity of the clinical manifestations of the peripheral neuropathy, the semiologically different types of essential tremor and the electrophysiological data, it is concluded that patients who develop a peripheral neuropathy on a familial basis and who exhibit clinical features of similar character, suffer from a common type of pathological disorder. Stress is laid upon the fact that Friedreich's ataxia and Charcot-Marie-Tooth disease share many clinical features. It is suggested that when Friedreich's ataxia and Charcot-Marie-Tooth disease seem to be present in the same individual and/or alternate in different members of the same family, the process is likely to be one of Charcot-Marie-Tooth disease. The value of the type of inheritance, natural history, clinical examination and electrophysiological data in differentiating Charcot-Marie-Tooth disease (with or without essential tremor) from other degenerative disorders is analyzed.
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PMID:Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature. 93 72

Birth of an infant at term to a diabetic woman with a severe form of Friedreich's disease is reported. The aetiopathogenesis of the cardiac deformities that led to the death of the child on day seven of life is discussed.
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PMID:[Friedreich's disease, diabetes and pregnancy. Description of a case]. 94 30


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