Description
He is a 20-year-old young man born of a consanguineous marriage, who was seen in clinic for walking difficulties and limb/joint deformities. The condition presented at around age 2 years with unusual gait and speech difficulties. Over time he developed muscle atrophy and weakness in all 4 limbs. Five years after disease onset he developed limb deformities consisting of claw-shaped hands, dorsal scoliosis, and flat feet. His sister shows the same finding, but seemed to present initially as ataxic gait and speech disorder, with the limb involvement developing later. More recently he has been experiencing pain and contractures in his upper extremities.
Symptoms / Signs
- On clinical exam he shows distal muscle atrophy and weakness (more marked in the lower limbs), claw hands, dorsal scoliosis, and flat feet.
- He also presents distal sensory loss (pin-prick, light touch, vibration) in all four limbs.
- The reflexes were reduced throughout.
- He has a steppage gait and he can walk only with support.
- He has lateral nystagmus, dystonia of the hands, and mild dysarthria.
- Alfafetoprotein, vitamin E and vitamin B12 levels were all normal.
Current Treatments
- Anti-inflammatory drugs, analsegics, and vitamin supplements
Prior Treatments
- No medication
Considered treatments
- Physical rehabilitation
Previously Considered Diagnoses
- Spinal cerebellar ataxia autosomal recessive with neuropathy, Charcot-Marie-Tooth disease
Genetic Variants of Interest
- SETX and FRDA testing negative. WES data analysis has not identified any significant variant yet.
Siblings, age & gender
One affected sister, three unaffected brothers, and one unaffected sister.
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Boubacar is a 25 year old man, born in Bamako, Mali. He dropped out school because of his condition. He is a nice young man, very kind and smiling, who hopes to heal from his illness and play football with his friends.
