Description
This 31-year-old woman was born of a consanguineous marriage and was seen for pain in distal limbs and walking difficulty. Since age 17 years, she had noticed problems with balance, missteps, and leg pain, which have worsened over time and caused frequent falls. Over time, she developed tremors in her upper limbs, with difficulty opening bottles, tingling in all 4 limbs, and dysarthria. She also noticed a thinning in the lower third of her arms and legs, and recently, problems with memory and calculations. One sister has presented similar distal motor and sensory findings.
Symptoms / Signs
- On exam, she presentsdysarthria, bidirectional horizontal nystagmus with mild slowing of eye movements
- Bilateral dysmetria, cogwheel sign on the right, distal muscular atrophy (interosseous muscles, and distal one third of all limbs) and weakness (left hamstrings, peroneal and the first two interosseous muscles)
- Hammer toes, deficits in sensations (pin- prick, light touch and temperature), reduced to absent reflexes throughout
- Wide based, ataxic and steppage gait, and inability to tandem gait and walk on tio toes.
- Blood pressure: 160/90 mmHg. Height 1.66m, weight 56Kg.
Current Treatments
- No medication
Prior Treatments
- Unknown
Considered treatments
- Antiepileptic drugs, Vitamins
Previously Considered Diagnoses
- Myoclonic epilepsy + Charcot–Marie–Tooth disease
Genetic Variants of Interest
- WES data analysis has not identified significant variants. SAMD12 testing (TTTCA repeat expansion) is being considered.
Siblings, age & gender
Affected sister who died at 30 years old, a 20-year-old sister with CMT, three brothers (34, 26, 18) and three sisters (28, 24, 22) with no symptoms.
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
B is a 31-year old woman from Mali who is passionate of new technologies and loves watching shows on television. Despite her deficits, she enjoys doing houshold work.
