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)

The authors investigated 10 ambulant patients with myotonic dystrophy, under 40 years of age (mean 22.3 years) and free of subjective heart complaints. Not only Ecg alterations but also kinetocardiographic changes and anomalies of the systolic intervals were rarer and milder than those found in patients with other neuromyopathies, namely Friedreich's disease and Duchenne's disease. This observation suggests that, at least in older patients, not all the cardiac alterations usually attributed to myotonic dystrophy are really imputable to the disease. On the other hand, the observed echocardiographic alterations (reduction of per cent systolic-diastolic variation of internal diameter of the left ventricle and/or the ejection fraction) apparently indicate an early tendency to modification of left ventricular function in patients with myotonic dystrophy. Since other authors have found cardiac anomalies in this disease before the onset of any neurological manifestations, the possibility emerges that some cases of myocardial disease interpreted as "primitive" might in reality be secondary to undetected myopathy.
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PMID:On some cardiological aspects of Steinert's disease (myotonic dystrophy). 54 5

A patient with Friedreich's disease and chronic progressive external ophthalmoplegia is descirbed. An investigation was performed into the nature of the ocular motor disorders, which appeared clinically to be supranuclear. The EMG of the ocular muscles suggested myopathy. A specimen of ocular muscle was obtained by biopsy and examined with the light microscope and-for the first time-under the electron microscope. Signs of mitochondrial myopathy were found alongside neurogenic features. Postmortem examination of the central nervous system confirmed the diagnosis of Friedreich's disease with lesions of the motor cells in the anterior horn of the spinal cord. No evidence was found for a supranuclear or inernuclear origin of the ocular palsies, but 20-30 per cent of the neutrons in the nuclei III and IV were atrophic. Lesions of the non-medullated motor nerve fibres were also visible under the electron microscope. That the origin of the c. p. e. o. in this heredo-ataxia is neurogenic-nuclear is postulated on the grounds of the neuropathological and electronmicroscopic findings. Resemblances to the microscopic and submicroscopic and submicroscopic appearance of many types of "ocular myopathy" and "ophthalmoplegia-plus" throw doubt upon the myogenic character of these conditions. Possibly chronic, slowly progressive atrophy in the nuclear areas of the ocular motor nerves must in these cases also be held responsible for the c. p. e. o. Perhaps Moebius's Kern-Schwund theory may be revived after 85 years.
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PMID:Chronic progressive external ophthalmoplegia in a heredo-ataxia: neurogenic or myogenic? A clinical, neuropathological and submicroscopic study. 60 73

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

Cost-conscious outpatient rehabilitation of 210 patients in a neuromuscular disease clinic was examined. The patients followed over a one-year period included: Duchenne Muscular Dystrophy, [50], Charcot-Marie-Tooth [42], Limb-Girdle Dystrophy [37], Spinal Muscular Atrophies [28], "Congenital" Myopathies [12], Friedreich's Ataxia [7], Polymyositis [7] and other related diseases. The 210 patients were profiled by age, sex, family history, and age at onset of symptoms. The rehabilitation of each patient was examined for ancillary service utilization such as pulmonary [11%], orthopedic [10%], and social services consultations [43%], formal occupational [7%] and physical therapy sessions [6%]. Rehabilitation costs were computed for each patient and each disease. "Rehabilitation Costs" included: equipment, laboratory fees, physician fees, building use, medications, travel, and P.T., O.T. and social service charges. Equipment expenditures were the major portion of rehabilitation, determined to be 70% of the annual costs. Because equipment was determined to be the overwhelming "rehabilitation" expense, the types of equipment prescribed for each disease were also defined. Laboratory testing was the next most costly category, resulting in 11% of the overall cost. Physician fees were determined to be only 8% of annual rehabilitation costs. The total mean per capita cost of outpatient rehabilitation was $750 per year, with a range of from $200 per year for Myotonic Dystrophy to $1200 per year for Duchenne Muscular Dystrophy. This study indicates that annual per capita "Rehabilitation Costs" in an outpatient neuromuscular disease clinic are surprisingly inexpensive when one considers the extent of disability in these diseases.
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PMID:Outpatient rehabilitation for chronic neuromuscular diseases. 376 10

A family is described in which a hereditary peripheral neuropathy occurs, inherited as an autosomal dominant character. The syndrome is present at birth and does not show any significant progression thereafter. Three of the cases have suffered from arthrogryposis multiplex congenita. A secondary myopathy is also present. The condition appears to be intermediary between peroneal muscular atrophy and Friedreich's ataxia. Appearance at birth, presence of arthrogryposis multiplex congenita, and the non-progressive nature separate it sharply from the other heredofamilial ataxias and peripheral neuropathies.
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PMID:Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex. 436 74

The preliminary results based on a one year study on the evolution and management of scoliosis are presented. Twenty-one patients were followed in the Neuro-Muscular Disease Clinic at Ste-Justine Hospital where standardized spinal radiographs were taken periodically with the Scoliosis Chariot and the Throne. The short period of observation as well as the relatively small number of Friedreich ataxia patients followed requires that these results and the following remarks be interpreted with caution. Pathomechanics -- Between the age groups I (5 - 10 years) and II (10 - 15 years), a substantial increase in the Cobb values occurs. Associated with it, an increase was observed in the thoracic and thoracolumbar projected surface area indices. The relative rotation between the thoracic and lumbar segments was presumed to be the cause of the sudden increase in the Cobb measurements. For the non-ambulatory patients, a decrease in the lumbar lordosis towards a thoraco-lumbar kyphosis as well as a sudden increase in the sacral angle and a drop in the lumbo-sacral angle were associated with the seated posture assumed by the patient. Management -- Prevention of the progression of established curves was our main objective. Careful examination of the spine, depending on the age of the child, in our preliminary study, stimulated early orthopaedic treatment in any curve of 20 degrees or more. There was always concern for curves of 30 degrees or more. In the growing child, bracing was recommended. In the older child, the curve was usually stable after sixteen years of age. Surgery was usually attempted in curves over 40 degrees in the growing child. The same curve was usually stable after the growth period. For the non-ambulatory patients, the present study suggested the prescription of a molded seat with the following characteristics: i) a posterior lumbar support, ii) low thoracic lateral supports and iii) a slight inclination of the seating system. This was presumed to be beneficial in maintaining stability of the spine. Presently, an evaluation of such a device is under investigation.
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PMID:Pathomechanics and management of scoliosis in Friedreich ataxia patients: preliminary report. 721 53

Hereditary inclusion body myopathy (HIBM) is a unique disorder of unknown etiology that typically occurs in individuals of Persian Jewish descent. Distinguishing features of the disorder from other limb girdle myopathies include elderly age of onset, ethnic predisposition, and sparing of the quadriceps despite severe involvement of all other proximal leg muscles. Involved muscles demonstrate fibers with rimmed vacuoles and filamentous cytoplasmic and nuclear inclusions. Additional histological features are accumulations of beta-amyloid protein and the absence of inflammatory cells. To identify the chromosomal location of the gene responsible for HIBM, nine Persian Jewish families with HIBM were evaluated. Genomewide linkage analyses identified the recessive IBM locus on chromosome 9 band p1-q1 (maximum lod score at D9S166 = 5.32, theta = 0.0). This region contains the Friedreich's Ataxia gene, raising the possibility that HIBM may be a related neurogenic disorder.
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PMID:Hereditary inclusion body myopathy maps to chromosome 9p1-q1. 878 55

A 13-year-old boy with clinical and electrophysiologic findings of Friedreich's ataxia developed unusually prominent myopathy. Skeletal muscle biopsy showed mitochondrial proliferation and structural abnormalities. No mutation was found in skeletal muscle mitochondrial DNA to explain this finding. Molecular genetic and pathologic studies confirmed a diagnosis of Friedreich's ataxia in the proband and affected relatives. Although the Friedreich's ataxia phenotype results from decreased expression of a mitochondrially targeted protein, frataxin, mitochondrial myopathy has not been described as a feature of the disease. The association between the frataxin gene mutation and mitochondrial myopathy in this case suggests that severe or cumulative insults to mitochondrial function may produce myopathic changes in some cases of Friedreich's ataxia. The patient also responded clinically to carnitine supplementation, suggesting a potential palliative therapy for the disease.
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PMID:Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report. 1217 69

A myopathy with severe exercise intolerance and myoglobinuria has been described in patients from northern Sweden, with associated deficiencies of succinate dehydrogenase and aconitase in skeletal muscle. We identified the gene for the iron-sulfur cluster scaffold protein ISCU as a candidate within a region of shared homozygosity among patients with this disease. We found a single mutation in ISCU that likely strengthens a weak splice acceptor site, with consequent exon retention. A marked reduction of ISCU mRNA and mitochondrial ISCU protein in patient muscle was associated with a decrease in the iron regulatory protein IRP1 and intracellular iron overload in skeletal muscle, consistent with a muscle-specific alteration of iron homeostasis in this disease. ISCU interacts with the Friedreich ataxia gene product frataxin in iron-sulfur cluster biosynthesis. Our results therefore extend the range of known human diseases that are caused by defects in iron-sulfur cluster biogenesis.
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PMID:Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. 1830 97

Iron-sulfur (Fe-S) clusters are essential for numerous biological processes, including mitochondrial respiratory chain activity and various other enzymatic and regulatory functions. Human Fe-S cluster assembly proteins are frequently encoded by single genes, and inherited defects in some of these genes cause disease. Recently, the spectrum of diseases attributable to abnormal Fe-S cluster biogenesis has extended beyond Friedreich ataxia to include a sideroblastic anemia with deficiency of glutaredoxin 5 and a myopathy associated with a deficiency of a Fe-S cluster assembly scaffold protein, ISCU. Mutations within other mammalian Fe-S cluster assembly genes could be causative for human diseases that manifest distinctive combinations of tissue-specific impairments. Thus, defects in the iron-sulfur cluster biogenesis pathway could underlie many human diseases.
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PMID:Iron-sulfur cluster biogenesis and human disease. 1860 75


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