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FA false aneurysm; Families Anonymous; Fanconi anemia; far advanced; fatty acid; febrile antigen; femor...
FRDA Friedreich ataxia
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FA Friedreich ataxia
FRDA Friedreich ataxia
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Friedreich's ataxia <neurology> An autosomal recessive inherited disorder that leads to the progressive dysfunction of the cerebellum, spinal cord and peripheral nerves.
Symptoms usually begin in childhood before puberty and consist of an unsteady gait (ataxia), slurred speech (dysarthria) and jerky eye movements (nystagmus).
Other findings include kyphoscoliosis, hammer toe, heart disease and high arches. Congestive heart failure is a common complication. There is no known treatment and prognosis is poor.
Inheritance: autosomal recessive.
(07 Apr 1998)
Friedreich's phenomenon The tympanitic percussion sound over a pulmonary cavity is slightly raised in pitch on deep inspiration.
(05 Mar 2000)
Friedreich's sign <clinical sign> In adherent pericardium, sudden collapse of the previously distended veins of the neck at each diastole of the heart.
(05 Mar 2000)
Friedreich, Nikolaus <person> German neurologist, 1825-1882.
See: Friedreich's ataxia, Friedreich's phenomenon, Friedreich's sign.
(05 Mar 2000)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Friedreich Ataxia - »õâ An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
    Synonyms : Freidreich's Ataxia, Friedreich Familial Ataxia, Friedreich Hereditary Ataxia, Friedreich Hereditary Spinal Ataxia, Friedreich Spinocerebellar Ataxia, Friedreich's Ataxia, Friedreich's Disease, Friedreich's Familial Ataxia, Friedreich's Hereditary Ataxia
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Friedreich's ataxia sclerosis of the posterior and lateral columns of the spinal cord; characterized by muscular weakness and abnormal gait; occurs in children
Ãâó: wordnet.princeton.edu/perl/webwn
Friedreich's sign diastolic collapse of the cervical veins due to adherent pericardium.
Ãâó: www.merckmedicus.com/pp/us/hcp/thcp_dorlands_conte...
Friedreich's ataxia Friedreich's ataxia is the most common autosomal recessively inherited type of ataxia. Like the autosomal dominant spinocerebellar ataxias, the main symptoms are loss of coordination and unsteadiness of gait. Other systems may also be affected and people with Friedreich's ataxia should be monitored for heart disease and diabetes. The affected protein is called frataxin, and is thought to be involved in iron metabolism.
Ãâó: www.dbs-stn.org/glossary1.asp
Friedreich's a. an autosomal recessive disease, usually beginning in childhood or youth, with sclerosis of the dorsal and lateral columns of the spinal cord. It is attended by ataxia, speech impairment, lateral curvature of the spinal column, and peculiar swaying and irregular movements, with paralysis of the muscles, especially of the lower extremities, and a high-arched foot. It is often associated with hypertrophic cardiomyopathy. Called also hereditary a. and Friedreich's tabes.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
Friedreich's ataxia, etc. see under ataxia, foot, and sign, and see paramyoclonus multiplex.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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Friedreich sclerosis of the posterior and lateral columns of the spinal cord
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