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)

Thirty-three children presenting with "primitive" cardiomyopathy observed from January 1984 to December 1985 underwent a protocol of investigations consisting of histo-enzymatic study of the deltoid muscle, metabolic studies (glucose, free fatty acids, lactate, pyruvate, 3-hydroxybutyrate, aceto-acetate, carnitine, amino-acids blood levels after a 15 hour-fast; urinary organic acids chromatography) and a study of the fatty acids oxidation in cultured fibroblasts. In all children cardiac involvement was predominant and had been the cause for hospitalization. Cardiomyopathies of the hypertrophic type have an early onset, most often are part of a complex picture of extra-cardiac involvement and frequently have a lethal evolution. On the contrary, hypokinetic dilated cardiomyopathies are most often isolated, have a later onset and a less severe course. In 2 cases, an early hypokinetic dilated cardiomyopathy evolved toward hypertrophy. Peripheral muscular involvement is very frequent (lipidosis, mitochondrial aggregates or specific aspects) (60% of cases) in dilated as well as hypertrophic types. A precise etiological diagnosis or a strong presumption was possible in 12 of 33 cases: 2 with hereditary deficiency of the fatty acids beta-oxidation, 1 carnitine systemic deficiency, 1 Friedreich ataxia, 1 central core disease, 1 coxsackie B1 myocarditis, 6 strong suspicions of respiratory chain deficiency.
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PMID:[Apparently idiopathic primary myocardiopathies in children. The role of metabolic etiology]. 344 58

Numerous neurological disorders are associated with myocardial disease or involve the cardiovascular system. Echocardiography thus proves quite helpful in the evaluation and management of patients with problems such as hydrocephalus, tuberous sclerosis, Friedreich ataxia, mitochondrial encephalo-myopathies, Werdnig-Hoffmann disease, convulsive disorders, syncope, central nervous system infections, etc.
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PMID:Echocardiography in neurological disorders. 355 83

Abnormalities of the heart are a frequent and possibly ubiquitous problem in patients with Friedreich's ataxia, but their pathogenesis is unclear. Postmortem findings are reported from the hearts of three patients with Friedreich's ataxia who died of congestive heart failure and atrial arrhythmias. Particular attention was paid to the following: the large and small coronary arteries, the nerves and ganglia, the conduction system, and the histological and cellular features of the cardiomyopathy. There were pleomorphic nuclei and focal fibrosis and degeneration throughout each heart including the conduction system. There were distinctive abnormalities of both large and small coronary arteries, and focal degeneration of nerves and ganglia. These observations suggest a mosaic concept for the pathogenesis for the cardiomyopathy of Friedreich's ataxia that involves the interplay of molecular faults, cardiomyopathy, cardioneuropathy, and coronary disease.
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PMID:Coronary disease, cardioneuropathy, and conduction system abnormalities in the cardiomyopathy of Friedreich's ataxia. 359 15

We evaluated the frequency of cerebral infarction in 131 patients with Duchenne's muscular dystrophy, myotonic dystrophy, Becker's muscular dystrophy, or Friedreich's ataxia. Electrocardiographic abnormalities were found in 83% of patients with Duchenne's muscular dystrophy, 56% with myotonic dystrophy, 50% with Becker's muscular dystrophy, and 25% with Friedreich's ataxia. Atrial flutter occurred in 2.3% of the patients, and atrial fibrillation in only 0.9%. Evidence of cerebral infarction was found in only 2 patients (1.5%). Both patients had cardiomyopathy and either atrial fibrillation or flutter. Despite frequent cardiac involvement, cerebral infarction is an uncommon occurrence in patients with inherited neuromuscular diseases.
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PMID:Frequency of cerebral infarction in patients with inherited neuromuscular diseases. 360 8

Friedreich's ataxia (FA) is an hereditary degenerative disease involving the spino-cerebellar via which in 10-15% of the cases is associated with symptomatic cardiac disease. Abnormal ECG or ECHO finding are present even in absence of cardiac symptoms in 100% of the patients. A 7 y.o. girl with the clinical picture of FA with cardiac involvement is presented. The features of the cardiomyopathy present in FA studied with ECHO, myocardial perfusion with Thallium 201 and with histologic examination and its relationship with the hypertrophic cardiomyopathy are discussed. Different theories aiming to discover a unique biochemical factor responsible of both the neurological and cardiac disorders are presented.
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PMID:[Cardiomyopathy in Friedreich's ataxia]. 378 77

Friedreich's ataxia (FA) is a progressive, spinocerebellar, degenerative, neuromuscular disease that is frequently associated with hypertrophic cardiomyopathy as part of the clinical illness. Hypertrophic cardiomyopathy associated with FA can be seen with or without obstruction to the left ventricle outflow tract. We present the postmortem findings in a case of FA with dilated (congestive) cardiomyopathy. At autopsy, the heart was enlarged with all four chambers dilated; no ventricular hypertrophy or aortic outflow obstruction was present. Microscopic sections of myocardium revealed myocyte hypertrophy, atrophy, and focal interstitial fibrosis. Findings of dilated cardiomyopathy at necropsy supported the antemortem clinical impression. Although FA has been reported to be associated rarely with dilated cardiomyopathy, postmortem documentation of dilated cardiomyopathy with FA has not been shown previously, to our knowledge. The mechanism of either form of myocardial disease in patients with FA is presently speculative.
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PMID:Dilated cardiomyopathy associated with Friedreich's ataxia. 383 61

A rare patient with Friedreich's ataxia and hypertrophic obstructive cardiomyopathy who showed evidence of coronary artery vasospasm on ambulatory electrocardiographic monitoring is presented.
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PMID:Friedreich's ataxia associated with hypertrophic cardiomyopathy and coronary vasospasm. 405 33

The physician exposed to a large number of patients with a recessive form of ataxia, will occasionally observe slower progression forms which lack many of the severe features or cardinal symptoms of Friedreich's disease. We have studied 31 such cases in Acadians of the Maritime Provinces of Canada, and in their separated "cousins" from Louisiana, now called "Cajuns". These patients are compared to a consecutive series of 22 Friedreich's disease cases in French Canada. It is shown that the age of onset is slightly later, but the progression much slower and the age at death older in the Acadian patients. These cases develop signs of pyramidal and posterior column involvement gradually and later than the classical Friedreich. As a result, pes cavus and scoliosis are less marked, as well as muscle weakness and cardiomyopathy. On the other hand, the rate of progression of areflexic ataxia, the "core disease", is identical in both groups. The main difference in progression rates of the disorders occurs after 10-12 years of evolution, thus after the period of hormono-ponderal growth. These differences, coupled to the diverging genetic and genealogical backgrounds, are sufficiently large for the presumption of distinct disorders. Whether they are due to allelic mutations, linked but different genes, genes affecting the same metabolic pathway, but elsewhere or to completely distinct entities, will have to be left to further studies, but their existence in completely different populations and milieux is worthy of report.
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PMID:Recessive ataxia in Acadians and "Cajuns". 639 46

In the light of the recent finding of deposits of calcium salts and iron in myocardial cells in one case of Friedreich's ataxia, we have made a detailed morphological study of 3 new cases of this cardiomyopathy. Calcium deposits were not found in the muscle fibers but lipofuscin granules and deposits of iron were observed in our 3 cases. In addition to the usual findings of interstitial fibrosis, hypertrophy and degeneration of myocardial fibers, foci of segmental active muscle necrosis were constantly present. There is a possibility that Friedreich's ataxia could be a neurocardiac degenerative disease with a membrane defect which could be related to defective metabolism of vitamin E or other micronutrients.
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PMID:The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases. 645 94

We evaluated 15 patients with Friedreich's ataxia (FA) to define the incidence of myocardial involvement and the type of cardiomyopathy observed. All patients with FA had either ECG, vectocardiographic or echocardiographic abnormalities, suggesting some degree of myocardial involvement. In contrast to reports indicating that asymmetric septal hypertrophy (ASH), often obstructive, is associated with FA, symmetric, concentric hypertrophic cardiomyopathy (SCH) was the predominant abnormality (sixty-seven percent of patients). Echocardiograms should be performed periodically in all FA patients since this technique allows the detection of cardiac hypertrophy.
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PMID:Hypertrophic cardiomyopathy in Friedreich's ataxia: symmetric or asymmetric? 719 34


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