Participant 113

Participant 113

At the age 2 years, he had an unspecified illness with diarrhea and fever, which was followed by lower limb weakness. Walking became difficult and painful.

Date of Report

Description

At the age 2 years, he had an unspecified illness with diarrhea and fever, which was followed by lower limb weakness. Walking became difficult and painful. Acupuncture treatment was ineffective. Walking continued to deteriorate, until he could only crawl. His arms also progressively became weaker, first first distally and then proximally. In the last few years, he has been essentially unable to move. His memory, vision, hearing and language are normal.


Symptoms / Signs

  • More distal motor and sensory (pin-prick, temperature, vibration) deficits in all four limbs, absent reflexes, generalized muscle atrophy,
  • skeletal deformities including claw hands and ankyloses in wrists and knees.

Current Treatments

  • No medication

Prior Treatments

  • Unknown

Considered treatments

  • Physical therapy

Previously Considered Diagnoses

  • Charcot-Marie-T disease type 2

Genetic Variants of Interest

  • CMT genes panel (50 genes+mtDNA) testing did not show any pathogenic variant. WES data analysis is ongoing and no variant was found yet.

Siblings, age & gender

Three affected brothers (36, 30, 24 years), one affected sister (40 years), one unaffected sister (26 years). Five sisters and one brother passed away before they presented symptoms.


Contact

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


Bio

A is a 38-year old man, who was born and lives in  small village in Mali. He loved playing football.


More pictures 

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