Sideroblastic anemia related to X with ataxia
The weakens sideroblastic related to X with ataxia is a very rare Genetic disease occurring only at the men. There exists a moderate Anémie being accompanied by any clinical sign.
The neurological demonstrations appear by a Ataxie, a Dysarthrie and a Adiadococinésie (incapacity to carry out reciprocating motions normally). The ataxia occurs precociously. The dysarthrie and the intentional tremor are of average intensity. The ataxia does not worsen or worsens very tardily.
The attack of the driving neuron causes sharp tendineux reflexes, a muscular Clonus disappearing quickly and an inadequate answer to stimulation from the plant of the feet. The use of crutch or wheelchair is sometimes necessary. A Nystagmus is sometimes present. A intellectual deficit is present as well as a tendency at the depression.
Sources
- Roberta has Pagon, Thomas D Bird, X-Linked Sideroblastic Anemia and Ataxia In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2006.