Description
Symptoms started 10 years ago (age 11 years) with an episode of fever attributed to malaria, followed by pain in the legs and a gait disorder. Symptoms worsened, with progressive loss of function of his legs, such that by one month after the initial presentation he was having difficulties walking. Later, he started having difficulties grasping objects with his hands. Over time, he developed atrophy in both arms and legs. He became progressively unable to walk, was reduced to crawling and since 2012 he is wheelchair- bound.
Symptoms / Signs
- Distal sensory and motor deficits in legs and arms, with diffuse muscle atrophy and absent reflexes, associated with contractures (e.g., hammertoes and claw hands).
- Axonal neuropathy documented by nerve conduction studies.
Current Treatments
- No medication
Prior Treatments
- No medication
Considered treatments
- Physical therapy, orthoses
Previously Considered Diagnoses
- None
Genetic Variants of Interest
- CMT gene panel (50 genes+mtDNA) did not show any pathogenic variant. WES data analysis is ongoing but no significant variant yet.
Siblings, age & gender
One affected brother (28 years), one affected sister (15 years), one unaffected brother (25 years) and three unaffected sisters (11, 13, 23 years).
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Mery is a 21-year-old boy born in a small village of Mali. He is a happy boy bringing joy to all members of his family in their everyday life. He loves hanging out with friends and listening to music.
