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.
- No medication
- 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.
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A is a 38-year old man, who was born and lives in small village in Mali. He loved playing football.