His condition presented at age 45 years with jerking movements in arms and legs while seating and lying. Relatives have noted these movements also during his sleep. He noted speech starting 3 years ago. Several relatives (father, uncles, full and half siblings, cousins, nephews) showed similar findings. All affected family members developed high blood pressure, some even at a young age, wheres unaffected family members have not.
Symptoms / Signs
- On exam he present myoclonic jerks worsened by movement, dysarthria, horizontal nystagmus, dysmetria, brisk reflexes in upper and lower limbs
- Decreased pin-prick and temperature in distal lower limbs, decreased vibration sense in all four extremities
- Difficulties in tandem walking, and dysdiadochokinesia.
- Muscle strength and walking are normal, and fasciculation is absent.
- EEG suggested generalized seizures.
- Valproic acid, Clonazepam, Piracetam, Amlodipine
Previously Considered Diagnoses
- Benign adult onset familial myoclonic epilepsy
Genetic Variants of Interest
- WES data analysis did not find any significant variant yet. SAMD12 repeat (TTTCA) expansion testing.
Siblings, age & gender
An affected brother who died at age 70 years, a 75-year old unaffected brother, an affected 58-year old sister, unaffected brother who died at age 40 years, an affected 60-year old half-sister, and unaffected half-brother and sister (58 and 30 years old, respectively).
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M is a 60-year old retired driver who is passionate about driving. He is a handsome man who loves his family very much.