Essay on Symptoms and Causes of Metachromatic Leukodystrophy

887 Words 4 Pages
Before going into the topic at hand, we must first define leukodystrophy. These are genetic disorders that damage the growth of the myelin sheath, a substance composed of fats and proteins. Metachromatic Leukodystrophy, also termed MLD, comes from the words: meta meaning change, chromatic denoting color, leuko for white matter and dystrophy meaning degeneration. It therefore means the degeneration in the white matter of the brain and a color in the Central Nervous System is found which supposedly should not be there. It affects nerves throughout the Peripheral Nervous System and Central Nervous System. It is not contagious but it can only be passed on through a birth of a child and there is currently no cure for this disorder.
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Late Infantile muscle rigidity
Hypotonia: decreased muscle tone
Esotropia: cross-eyed
Psychomotor regression
Nystagmus (type of abnormal eye movement)
Decreased speech
Ataxia (loss of the ability to coordinate muscular movement)
Eventual absence of voluntary functions progressive loss of vision leading to blindness, convulsions, impaired swallowing, paralysis, and dementia
Juvenile incontinence difficulties in walking slurred speech seizures abnormal postures tremor lose ability to walk mental deterioration dementia symptoms similar to the infantile form but with slower progression
Adult impaired concentration ataxia seizures dementia tremor

Forms There are three forms of MLD: late infantile, juvenile, and adult. The late infantile form is the most common and is usually between 12-20 months after birth. Skills such as walking and speech begin to decline. The child later becomes bedridden, unable to speak or feed themselves. Seizures may occur but they will eventually disappear. Contractures are common and are painful. The child is still able to respond to his/her parents, but may soon become blind and mainly unresponsive. Swallowing becomes difficult and a feeding tube will be necessary. The child may survive for 5-10 years with the current treatments given today. Death usually occurs as the result of an infection such as

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