Participant 117

Participant 117

Symptoms started at age 7 years, in the form of tremors of the extremities when trying to pick up objects.

Date of Report

Description

Symptoms started at age 7 years,  in the form of tremors of the extremities when trying to pick up objects. Around age 10 years, parents reported progressive worsening of the clinical features, speech disorder, and now a delay in responses and speech that is almost not understandable at all. He became nervous  and aggressive, with increasing difficulties in understanding and calculating.


Symptoms / Signs

  • He responds slowly to questions.
  • His eyes show bilateral horizontal nystagmus. Kinetic tremor and dysmetria are present, worse with eyes closed.
  • There is slight myoclonuses in his arms. Reflexes were reduced, mostly in the lower limbs, and the plantar response is downgoing (toe flexion).
  • There were no sensory or motor deficit. Walking and tandem walking were normal.

Current Treatments

  • Valproic acid, Clonazepam

Prior Treatments

  • No medication

Considered treatments


Previously Considered Diagnoses

  • Progressive myoclonic epilepsy

Genetic Variants of Interest

  • Epilepsy panel and candidate testing negative

Siblings, age & gender

26-year-old brother and 25-year-old sister


Contact

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


Bio

M  is a 20-year old young man from Mali. He is the kindest boy who likes playing football. He loves his family very much.


More pictures 

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