At 8 years of age he presented with swelling in both arms and legs, followed by leg weakness causing difficulty walking, and over time by muscle atrophy in all limbs. He occasionally reports pain in his legs. His condition impairs him in his daily activities. In the last 5 years, he has had difficulty climbing stairs and crossing the road, and has been unable to use his hands.
Symptoms / Signs
- Distal sensory and motor deficits, absent reflexes,and muscle atrophy (especially in the thenar and hypothenar muscles and in the feet and calves) in all limbs, steppage gait, pes cavus, and claw hands.
- Nerve conduction studies were consistent with axonal-type neuropathy .
- Physical therapy, orthoses
Previously Considered Diagnoses
- Charcot-Marie-T disease type 2
Genetic Variants of Interest
- CMT genes panel testing (50 genes + mtDNA) did not show any pathogenic variant. WES data analysis is ongoing but no significant variant was found yet.
Siblings, age & gender
One affected brother (deceased) who would have been 50 years today, one unaffected brother and sister, 45-years and 41-years old respectively. He also has two affected children, a boy (7 years) and a girl (3 years).
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at firstname.lastname@example.org
M is a 48-year-old man born in a small village of Mali. He is joyful and enterprising, and works in a shop that he manages himself to help his family in everyday life.