Hereditary HyperekplexiaSymptoms, Doctors, Treatments, Advances & More
Learn About Hereditary Hyperekplexia
Condition 101 content is not available at this time, but we are continually updating the site. Please check back.
However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Vickie & Jack Farber Institute For Neuroscience - Honickman Center
Marinos Dalakas is a Neurologist and a Neuromusculoskeletal Medicine provider practicing medicine in Philadelphia, Pennsylvania. Dr. Dalakas is rated as an Elite provider by MediFind in the treatment of Hereditary Hyperekplexia. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Stiff Person Syndrome, Chronic Inflammatory Demyelinating Polyneuropathy, Hereditary Hyperekplexia, Chronic Polyradiculoneuritis, and Laminectomy. Dr. Dalakas is board certified in Neurology. Dr. Dalakas is currently accepting new patients.
Natascha Schaefer practices practicing medicine in Wuerzburg, Germany. Ms. Schaefer is rated as an Elite expert by MediFind in the treatment of Hereditary Hyperekplexia. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Hereditary Hyperekplexia, Stiff Person Syndrome, Primary Lateral Sclerosis, and Spasticity.
Mark Rees practices practicing medicine in Swansea, United Kingdom. Mr. Rees is rated as an Elite expert by MediFind in the treatment of Hereditary Hyperekplexia. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Hereditary Hyperekplexia, Agyria Pachygyria Polymicrogyria, Myoclonic Epilepsy, and Juvenile Myoclonic Epilepsy.
Summary: Hereditary hyperekplexia is a rare neuronal disorder, caused by genetic defects leading to dysfunction of glycinergic neurotransmission. The clinical presentation is characterized by stiffness and exaggerated startle responses to unexpected stimuli, that appear shortly after birth. The generalised stiffness can lead to apnea and sudden infant death syndrome. Several genes are known to be associate...