What Is Pelizaeus-Merzbacher Disease – PMD?

Pelizaeus-Merzbacher disease is a rare genetic disorder caused by an inability to form myelin, the covering that protects nerves and help the transmission of nerve impulses. As a result, patients with this condition have delayed motor skills, such as coordination and walking as well as impaired intellectual functions, such as language and memory. In simple terms, PMD patients are not able or have limited ability to walk or talk, and in more severed cases called the connatal form, have a very short life span. Most PMD affected patients are male but there are rare cases where females are also affected. Read more…

Symptoms

Symptoms can begin in infancy and the first recognizable sign is a form of involuntary oscillatory movements of the eyes (nystagmus), unusual breathing, floppiness and limited head and trunk control, spasticity. See videos…

Inheritance

PMD is passed from a mother to a child & may affect individuals of any ethnic background. It follows an X-linked pattern of inheritance & therefore affects male patients more often & more severely than female patients. Read more…

Patient Studies

Watch this video of a PMD patient, Leonardo, age 7, who recently received adult stem cell injections along with physical therapy, occupational therapy, electric wave therapy, and acupuncture in his fight against PMD. 
Watch video…

Cure and Treatment

Currently, there is no cure nor standard treatment for PMD. There are clinical trials… Learn more…

Resources

Articles, researches, and resources for Pelizaeus-Merzbacher disease . Read more…

How To Help

YOU can help right here, right now, just by spreading the word. Learn more…

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