Friedreich's ataxia

Alternative eponyms

Related people

An inheritable, chronic and progressive degenerative disease with sclerosis of the dorsal and lateral columns of the spinal cord.

Description

An inheritable, chronic and progressive degenerative disease with sclerosis of the dorsal and lateral columns of the spinal cord. Accompanied 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. A variety of skeletal deformities (Friedreich foot) may be present and cardiac involvement (30-50%) represents a potentially lethal complication. Up to 90% have ECG. anomalies relating to associated cardiomyopathy. Onset occurs in childhood or early adolescence, rarely after the age of 20. Inheritance is usually autosomal recessive or dominant, but sporadic cases have also been observed.

Bibliography

  • N. Friedreich:
    Über degenerative Atrophie der spinalen Hinterstränge.
    [Virchows] Archiv für pathologische Anatomie und Physiologie und für klinische Medizin, Berlin, 1863, 26: 391-419, 433-459. Also volume 27, pp 1-26; and 1867, volume 68, pp 145-245. Über Ataxien mit besonderer Berücksichtigung der hereditären Formen.
    [Virchows] Archiv für pathologische Anatomie und Physiologie und für klinische Medizin, Berlin, 1876, 68: 145-245.
    In a supplement to above (1877, 70: 140-152) he described the tabes named after him).

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