disease: Anemia sideroblastic and spinocerebellar ataxia
| id | 246 |
|---|---|
| name | Anemia sideroblastic and spinocerebellar ataxia |
| description | X-linked sideroblastic anemia and ataxia (XLSA/A) is characterized by moderate anemia and early-onset spinocerebellar syndrome in males, manifest primarily as delayed walking, ataxia evident in early childhood, dysmetria, and dysdiadochokinesis. When present the intention tremor is mild and the dysarthria is mild to moderately severe. The ataxia has been described to be either non-progressive or slowly progressive. Upper motor neuron (UMN) signs in the legs, manifest by brisk deep tendon reflexes, unsustained ankle clonus, and equivocal or extensor plantar responses, are present in some males. Need for crutches or a wheelchair has been reported. Strabismus is seen in some males. Nystagmus and hypometric saccades may occur. Mild learning disability and depression are seen. The moderate hypochromic and microcytic anemia does not cause symptoms. Carrier (heterozygous) females have a normal neurologic examination and may show mild hematologic abnormalities. |
| variant-disease |
NM_004299.6(ABCB7):c.1234G>C (p.Val412Leu) AND Anemia sideroblastic and spinocerebellar ataxia NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) AND Anemia sideroblastic and spinocerebellar ataxia NM_004299.6(ABCB7):c.1238T>C (p.Met413Thr) AND Anemia sideroblastic and spinocerebellar ataxia NM_004299.6(ABCB7):c.1203T>G (p.Ile401Met) AND Anemia sideroblastic and spinocerebellar ataxia NM_004299.6(ABCB7):c.627A>T (p.Glu209Asp) AND Anemia sideroblastic and spinocerebellar ataxia |