C10orf2-related ataxia neuropathy spectrum disorders

A group of disorders with overlapping phenotypes caused by mutation(s) of the POLG gene, encoding DNA polymerase subunit gamma-1. Phenotypic variations include Alpers-Huttenlocher syndrome (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), autosomal recessive progressive external ophthalmoplegia (arPEO), and autosomal dominant progressive external ophthalmoplegia (adPEO).

Disease Alternative Name

polg-related spectrum disorders

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A case of Abdominal epilepsy *Chief Complaints* Loss of consciousness one episode Pain abdomen and loose stools *History* A female patient 25 year old came to the OPD with complaints of loss of consciousness after an episode pf loose stools prior to which she had severe crampy abdominal pain. Symptoms lasted for about 3-4 min witnessed by her mother.No h/o tonic clonic movements. No h/o fever headache giddiness, visual disturbance or ENT symptoms No post episode headache limb weakness Known case of IBS on diet.Hypothyroid on 25 mcg Thyronorm OD.. *Vitals* Normal *Investigations* EEG normal.MRI brain small nodular subependymal heterotopia adjacent to the atrium of right lateral ventricle. *Physical Examination* Nothing significant *Diagnosis* Abdominal Epilepsy *Management* Started on Tab Carbamazepine 300 mg incremental dosage
Dr. Naga Tanooj
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