What are the symptoms in adults with Pelizeus-Merzbacher disease? Can these persons have normal life activities? What’s the most severe clinical picture of this disease like? A friend of my had a miscarriage and after that it was diagnosed that her baby had genetic mutation that causes pmd. That was really horrible. What are the chances that it happens again?
The mildest clinical picture of pmd includes spastic paraplegia. This disease is progressive and persons rarely live to adulthood. Mental functions are disturbed, slow growth, deteriorated speech and nystagmus also occur. There is no cure for this disease. It‘s detectable by amniocentesis or ultrasound. This disease is rare and very severe.