Description
This is a 20-year-old woman born from a consanguineous marriage, who presented at age 5 years wtih difficulty walking and running, and frequent falls. She could not keep up with her peers when walking or running. For the last 7 years she noticed tremors when gripping objects and episodes of dizziness. These findings have worsened over time, such that can walk only short distanaces and cannot do simple tasks such as opening jars. Her 30-year old sister has similar findings.
Symptoms / Signs
- On exam she has distal muscle weakness and atrophy, as well as sensory deficits (pin-prick, temperature and vibration).
- She has bilateral pes cavus and hammertoe deformities.
- Reflexes are reduced to absent throughout. Plantar reflexes were indifferent.
- She also has multidirectional nystagmus, dysmetria, an ataxic gait, and inability to tandem walk.
- Blood pressure in clinic was 120/70 mmHg.
Current Treatments
- Piracetam
Prior Treatments
- None
Considered treatments
Previously Considered Diagnoses
- Myoclonic epilepsy + Charcot–Marie–Tooth disease
Genetic Variants of Interest
- WES data analysis is ongoing (no significant variant yet). SAMD12 testing (TTTCA repeat expansion).
Siblings, age & gender
A 31-year-old affected sister, another affected sister who died at age 30 year, three brothers (34, 26, 18 years old) and three sisters (28, 24, 22 years old) with no symptoms.
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
M is a 20-year old girl from Mali. She loves housework, especially cooking. Her hobby is watching TV shows. She loves her family a lot.
