Pelizaeus Merzbacher Disease: Treatment, Cost and Side Effects

The Pelizaeus-Merzbacher disorder is a condition that is inherited. It involves the spinal cord or the central nervous system and the brain. This condition is a part of several genetic disorders that are known as leukodystrophies. Leukodystrophies are a set of conditions involving malformation of the white matter found in the nervous system. The white matter is comprised of fibrous nerves that are covered by fatty substances known as myelin. The nerve fibers are insulated by Myelin. The insulation helps to promote rapid transmission of the nerve impulses. In the Pelizaeus-Merzbacher disorder the nervous system is incapable of forming myelin which is known as hypomyelination. Because of this the all-round neurological function gets reduced markedly.

The Pelizaeus Merzbacher disorder can be divided into two categories; connatal and classic. The two are different when it comes to the severity but there are overlapping features involved. The classic category is more commonly occurring amongst people. Those who are affected with the classic disorder suffer from weak muscle (hypotonia). Lowered motor skill development, involuntary motion of the eyes within the very first year of their life. People afflicted with this disorder are able to carry out activities with the aid of assistance. As the condition keeps worsening over time movement disorders such as spasticity or ataxia, tremors of the neck and head, jerks and dystonia start to develop.

The Connatal category is the most severe; in it the symptoms will start to show as early as in infancy. The symptoms usually involve trouble with feeding, lower gain in weight, obstruction of the airways, difficulty with speech, nystagmus, seizures, hypotonia, and stunted growth. Children who are suffering from Connatal Pelizaeus Merzbacher disorder tend to develop deformities. Some of them are not able to walk permanently and can also experience difficulty with moving their arms. Although these children can comprehend speech they may have difficulty with speaking.

On noticing the signs and symptoms of this genetic disorder a PMD diagnoses will be suspected after thoroughly carrying out a clinical evaluation. Your medical supervisor will also evaluate the previous medical history, and will conduct an array of tests include MRI (magnetic resonance imaging) to find out any deficiency of the white matter. Early detection of myelination aides in the early discovery of the existence of severe PMD (Pelizaeus Merzbacher Disease) forms, if any.

A Carrier testing can be carried out if the mutation responsible for the disease is discovered in any family member who has been affected. If the PLP1 mutation is found in any family member then diagnoses such as Preimplantation genetic diagnosis and Prenatal diagnosis is available.

There is neither any standard treatment nor any standard cure for PMD Treatment is usually decided upon symptoms present. For example medications might be prescribed for the prevention of seizures, or for other movement disorders. Other treatment methods involve a team comprising of specialists in the field of physical medicine, pulmonary medicine, gastroenterology and neurology. Further management methods involve antiepileptic medications for controlling seizures, gastronomy for those suffering from dysphagia, physical therapy for those with spasticity or limited bodily movements and surgical procedures for dealing with contracture of the joints. Those with scoliosis will experience relief by sitting in wheelchair and taking recourse to physical therapies.

Those who are suffering from the signs and symptoms of PMD (Pelizaeus Merzbacher Disease) are advised to go for a check-up. Most often the symptoms start to show during infancy, so early diagnoses and detection is recommended.

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There is neither any standard treatment or cure for Pelizaeus Merzbacher Disease. Therefore, there is no such time for recovery.

The cost of a MRI scan varies between Rs. 1500- Rs. 25000. And the cost of surgery for joint contracture is nearly 2 lakhs in India.

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