Pontocerebellar HypoplasiaSymptoms, Doctors, Treatments, Advances & More
Pontocerebellar Hypoplasia Overview
Learn About Pontocerebellar Hypoplasia
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.
Frank Baas practices practicing medicine in Leiden, Netherlands. Mr. Baas is rated as an Elite expert by MediFind in the treatment of Pontocerebellar Hypoplasia. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Pontocerebellar Hypoplasia, Charcot-Marie-Tooth Disease, Pneumococcal Meningitis, and Spinal Muscular Atrophy with Arthrogryposis.
Lydie Burglen practices practicing medicine in Paris, France. Ms. Burglen is rated as an Elite expert by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Pontocerebellar Hypoplasia, Cerebellar Hypoplasia, Achalasia Microcephaly Syndrome, Microcephaly, and Deep Brain Stimulation.
Maha Zaki practices practicing medicine in Cairo, Egypt. Ms. Zaki is rated as an Elite expert by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 68 other conditions, according to our data. Her clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Cortical Dysplasia, and Lissencephaly.
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers...