Participant 116

Participant 116

Symptoms started at 7 years of age in the form of hand tremors when trying to pick up objects. Around age 10, parents reported progressive worsening with jerking movements in her arms and cognitive decline (problems with calculations).

Date of Report

Description

Symptoms started at 7 years of age in the form of hand tremors when trying to pick up objects. Around age 10, parents reported progressive worsening with jerking movements in her arms and cognitive decline (problems with calculations).
She dropped out of school because of worsening symptoms, though lately her symptoms seem to have stabilized.


Symptoms / Signs

  • Hand tremors when picking up objects, noted at  7 years of age, worsening around age 10 years with jerking movmements of her arms and cognitive decline (calculations). Lately her condition appears stable. 

Current Treatments

  • Valproic acid, Clonazepam

Prior Treatments

  • Valproic acid, Clonazepam

Considered treatments

  • Lamotrigine

Previously Considered Diagnoses

  • Progressive myoclonic epilepsy

Genetic Variants of Interest

  • Epilepsy panel gene was negative but exome sequencing identified two ho- mozygous variants in two genes (DNAH17 and PSMB1).

Siblings, age & gender

Two affected brothers (26 and 20 years old)


Contact

If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org


Bio

M is a 24-year old beautiful girl from Mali. She loves household work, especially cooking. She loves her family very much.


More pictures 

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