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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 spinocerebellar degeneration is described affecting ten members of a family over five generations with transmission by X-linked recessive inheritance. The clinical features include pes cavus, scoliosis, increased lumbar lordosis and signs of cerebellar dysfunction. There is a slowly progressive distal muscle atrophy, pyramidal weakness, brisk tendon jerks and the plantar responses are extensor. Sensory abnormalities were observed only in the two eldest members and consisted of mild impairment of position and vibration sense. A sural nerve biopsy showed loss of large diameter fibres and uniformly short internodal lengths as is usually found in Friedreich's ataxia. However, the electrophyisological findings of retained sensory action potentials and reduced motor conduction velocities contrast with those of Friedreich's ataxia. Post-mortem examination of one of the affected members revealed spinal cord pathology similar to that seen in Friedreich's ataxia with degeneration of the dorsal columns, and spinocerebellar and corticospinal tracts although the loss of Purkinje cells in the cerebellum was greater than is usually seen in that condition.
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PMID:A spinocerebellar degeneration with X-linked inheritance. 42 31

The evolution of 15 patients initially evaluated during Phase One of the Quebec Cooperative Study of Friedreich's ataxia has been studied approximately three years later. It is concluded that the deterioration of cardio-pulmonary function in Friedreich's ataxia is multifactorial. The neuromyopathy (or the underlying metabolic or cellular defect) appears to be the main contributing factor to the deterioration of cardio-pulmonary function, which is exacerbated by the scoliosis and varying severity of the cardiomyopathy.
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PMID:Evolution of cardio-pulmonary involvement in Friedreich's ataxia. 48 3

Pulmonary function tests were carried out on 20 patients with Friedreich's ataxia. The lung volume, diffusing capacity, flow rate, flow-volume curve, and blood gases were measured. In each patient the degree of scoliosis was measured and the pulmonary function tests were analyzed in relation to the scoliosis. A control group of 13 subjects with idiopathic scoliosis was used for comparison. In both groups, the degree of scoliosis was similar.
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PMID:Pulmonary function studies in Friedreich's ataxia. 100 Apr 20

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

Children with progressive neurological conditions such as spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia (Riley-Day syndrome), and Charcot-Marie-Tooth disease have a significant risk of acquiring a serious spinal deformity. As with paralytic scoliosis following poliomyelitis, the curves are difficult to control with bracing, and progression does not cease with maturation. An increasing spinal curvature may lead to loss of ambulation or, for the wheelchair-bound patient, loss of sitting balance. The curvature may further compromise pulmonary function that may already be compromised by the neurological deficit. Twenty patients are reported with an average follow-up of six years (range, one to fourteen years). For the properly selected patient, surgical stabilization of the spine arrested the progress of the curve and improved function. Complications were few; however, pseudarthrosis was more common than in patients with non-neurological problems.
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PMID:Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia, and Charcot-Marie-Tooth disease. 124

Fourteen patients with the clinical diagnosis of early onset cerebellar ataxia with retained tendon reflexes (EOCA) were examined and compared with 11 patients with Friedreich's ataxia (FA). The mean age of onset in EOCA was 15.9 +/- 6.0 yrs (FA: 14.0 +/- 5.7 yrs). Annual progression rate and the percentage of patients who were wheelchair-bound was lower in EOCA as compared with FA, although the difference did not reach statistical significance. The latency until becoming wheelchair-bound, however, was significantly longer in EOCA than in FA. The segregation ratio in EOCA was significantly lower than 0.25. Clinically, EOCA and FA patients presented with a progressive cerebellar syndrome. Associated symptoms, such as muscle wasting, sensory disturbances, foot deformity, scoliosis and electrocardiographic abnormalities were encountered less frequently in EOCA than in FA patients. The electrophysiological findings in EOCA were variable and pointed to axonal degeneration in peripheral nerves and central pathways. Posturographic measurements revealed a higher incidence of anteroposterior sway direction in EOCA as compared with FA, suggesting a cerebellar type of ataxia in EOCA. Eleven out of the 14 EOCA patients had cerebellar atrophy in MRI. The characteristic MRI finding in FA was upper cervical cord shrinkage and only minor atrophy of the cerebellum. The demonstration of cerebellar atrophy in the majority of EOCA patients supports the view that EOCA is distinct from FA. It is uncertain, however, whether EOCA is a homogenous disease entity or a group of phenotypically similar syndromes.
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PMID:Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. 188 66

The Quebec Cooperative Study on Friedreich's ataxia required an onset before age 20 as an obligatory criterion of Friedreich's disease (FD). Harding included patients with onset before 25 years. We studied nine patients with FD phenotype but with onset ranging from 21 to 29 years (mean 24.4). Statistical analysis of the distribution and intrafamilial variation of onset age suggests that late onset Friedreich's disease (LOFD) is a distinct genetic entity or results from modifying genes in some families. Scoliosis was less common in LOFD than FD patients but otherwise the clinical picture was similar.
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PMID:Late onset recessive ataxia with Friedreich's disease phenotype. 261 35

Thirty-four nonambulatory patients with progressive neuromuscular spinal deformity were surgically managed using a 1/4" U-shaped double rod construct with segmental instrumentation from T2 to the pelvis accompanied by posterior spinal fusion. Diagnoses included 17 patients with cerebral palsy, six with spinal bifida, and 11 with other diseases (spinal muscular atrophy, Friedreich's ataxia, polyneuropathy, nemaline myopathy, and polio). Twenty-three patients had single uncompensated thoracolumbar curves, and 11 had a double curve pattern. The mean preoperative major curve was 66 degrees (range, 22-132 degrees), the secondary curve 58 degrees (range, 23-84 degrees). No postoperative spinal support was used. Mean curve correction was 36 degrees or 54.6%. There were four major complications, including two implant failures requiring revision and two patients sustaining excessive intraoperative blood loss necessitating completion of the procedure in a second stage. There were two neurologic complications including one case of postoperative seizures and an L4 monoradicular neuropathy in a spina bifida patient. Four patients had temporary postoperative ileus, one gastroesophageal reflex, and four had urinary tract infections. There were no significant postoperative pulmonary complications. Excluding the patients with rod failure, mean loss of correction at mean follow-up of 21.3 months was 6.5%. The stability and curve correction obtained using this system supports its continued use in patients with progressive neuromuscular scoliosis.
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PMID:Unit rod segmental spinal instrumentation in the management of patients with progressive neuromuscular spinal deformity. 261 59

The intraoperative variability of somatosensory cortical evoked potentials (SCEPs) has been measured for 320 consecutive spinal surgeries and found to be a function of patient diagnosis, neuromuscular status, age, and procedural factors. In many cases, it is likely that this variability severely limits the reliability and usefulness of spinal cord monitoring in detecting early cord compromise. Patients with idiopathic scoliosis, spondylolisthesis, and pseudarthrosis have the smallest spontaneous variability and strongest amplitudes, while those with congenital, paralytic scoliosis, stenosis, or tumor have very variable, weak SCEPs. Patients with neurologic disorders, particularly cerebral palsy, myelomeningocele, Friedreich's ataxia, and peripheral deficits, also have high variability and weak amplitudes. A monitoring quality scoring system is proposed that may be useful during surgery in judging how well the SCEPs can discern surgically related changes in cord function from background variations.
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PMID:Variability of somatosensory cortical evoked potential monitoring during spinal surgery. 278 92

The clinical records of 72 patients with spinocerebellar ataxias which had manifested before the age of 20, were examined in a retrospective study. Depending on whether the muscle stretch reflexes in the legs were positive or negative, two groups were distinguished, that of early onset cerebellar ataxia with retained tendon reflexes (EOCA) (13 P.) and that of Friedreich's ataxia (FA) (59 P.). The clinical course was much worse in the FA patients compared with EOCA. Cardiomyopathy and diabetes mellitus were not a feature of EOCA. Scoliosis and a disturbed position sense in the toes were more frequent in FA cases. The striking differences in clinical signs and course of the diseases justify the differentiation of EOCA from FA, as suggested by Harding in 1981.
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PMID:[Differential diagnosis of Friedreich ataxia]. 292 87


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