Phenotype #0000130156

Individual ID	00165277
Associated disease	MGR1
Phenotype details	The patient presented, at 4 years of age, with a history of uncontrolled jerking of the limbs and trunk not noticed at birth, but observed by the family since 2 years of age. The jerking movements were exacerbated by fine motor activity and walking. Neurological examination was largerly normal, with the exception of impaired fine motor coordination, a clumsy gait and multifocal action myoclonus. Over the next few months, increased myoclonus and gait deterioration were noted, the patient started to receive intensive physical and occupational therapy. At 9 years of age she began to develop frequent "band-like" headaches weekly that were moderately severe, but lasted less than 1 hour. The headaches have never been accompained by aura, photophobia, phonophobia, nausea, vomiting or ataxia, but she reports frequent periodic colorful visual distortions unassociated with the headache.
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Owner name	Paola Carrera
Database submission license	No license selected
Created by	Paola Carrera
Date created	2012-02-14 11:16:32 +01:00 (CET)
Date last edited	2012-04-18 10:37:24 +02:00 (CEST)