Progressive Ataxia; A case report of WES application -LMNB2

Ataxia defined as impaired coordination of voluntary muscle movement, which is a cardinal clinical symptom that present in the history of patients and their physical examination. Approach to Ataxia as a clinical manifestation of various diseases has some complexities. For candidate of a patient to genetic testing needs some criteria. In this case report we want to discuss about the Ataxia genetic approach by introducing the patient.The case is a 5 years old boy that present by progressive ataxia due to generalized epilepsy and Myoclonus. He is from a consanguineous marriage. The Onset is in 4th months of life with seizure and then the mild neurodevelopmental delay accrued. Ataxia appears at the 1 to 2 years of life the first diagnosis was Static Encephalopathy . Generalized myoclonus and progressive ataxia lead to inability to move and seat in 5-Y/O. The metabolic tests are not shown a remarkable abnormality. So, due to his genetic testing with WES, two VUS variant in two different genes are reported, that a novel mutation in LMNB2 gene-that not reported before-had been segregated in this family.Pure ataxia is a rare condition. Ataxia as a main complain of the patient must be mentioned in the history taking especially in the lower ages like infantile onset of disease. Associate clinical symptoms and signs almost always exist to suggest an underlying cause (Especially for differentiation of genetics or acquired causes).

کلیدواژه ها:

Progressive Ataxia ، Generalized Myoclonus ، Seizure ، LMNB2 gene