Conditions / Nervous system
hyperekplexia 4
info · Nervous system
A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.
Signs and symptoms
- Hypertonia
- Inguinal hernia
- Seizure
- Respiratory failure
- Encephalopathy
- Kyphoscoliosis
- Hypsarrhythmia
- Talipes equinovarus
- Flexion contracture
- Distal arthrogryposis