Description
She presented at age 48 years with by abnormal jerking movements in all 4 limbs. These symptoms worsened progressively making walking difficult with frequent falls. Relatives reported jerking movements also during her sleep. She reports worsening of the jerking movements when she is in a crowd or in festivities. She also reports insomnia accompanied by headache. She has seen traditional healers with no success. She has several relatives with the same findings, including full and half-siblings, father, uncles, and children.
Symptoms / Signs
- On exam she shows myoclonic jerks in all 4 limbs, greater in the upper limbs and worse when she is asked questioned
- Reflexes were brisk in the upper and lower limbs, however Achilles tendon reflexes were absent.
- She has sensory deficits in the lower extremities, and plantar reflexes were indifferent.
- Coordination is not impaired, and the Romberg sign was absent.
- She did not report high blood pressure but on the day of visit the blood pressure was measured at 200/100 mmHg R and 180/100 mmHg L.
- Weight: 53 Kg.
- EEG was consistent with generalized seizures.
Current Treatments
- Valproic acid, Amlodipine, Reduced sodium intake
Prior Treatments
- None
Considered treatments
- None
Previously Considered Diagnoses
- Myoclonic epilepsy
Genetic Variants of Interest
- WES data analysis is ongoing. SAMD12 testing (TTTCA repeat expansion).
Siblings, age & gender
She has many affected siblings and relatives
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Djelika lives in Kalabancoro, Bamako, Mali. She is a 60-year old mother of 6 children. She likes housework and caring for her family.
