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What is Metachromatic Leukodystrophy?

What is Metachromatic Leukodystrophy?

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Published by: http://feelgoodtime.net on Jan 01, 2013
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Metachromatic leukodystrophy
is a topic we will explain today.This is another topic from Childrean Health Category. AfteErythrophobia, Anuptaphobia andGamophobia,as disorders which start in early childhood, we have decided to write aboutsomething far more serious in this article
 –
a metachromaticleukodystrophy.Metachromatic leukodystrophy (MLD) is a rare, genetic,degenerative disease, a neurometabolic disorder that affectsone of 40,000 children in the world. Metachromaticleukodystrophy often caused by the gene mutation; lack or 
deficiency of the “arylsulfatase A” enzyme
in the body. Thisenzyme is necessary for decommissioning and cleaning of cells from sulfatides. In the whitesubstance of the brain and myelin sheath of peripheral nerves cerebrosides-sulfatidesaccumulate.
What are Metachromatic Leukodystrophy Symptoms?
 
Metachromaticleukodystrophy symptoms 
are:
Irritability (excessive response to ordinary stimuli; sound, smell, light, heat, cold) the termrefers to the children who due to illness are nervous, agitated for no apparent reason
Difficulty in feeding, dysphagia (notdysphasia,which is a different term)
Difficulty walking, clumsiness
Loss of muscle control
Difficulty in speech, slurred speech
Hypotonia (decreased muscle tone)
An abnormally high muscle tone
Abnormal muscle movements
Ataxia (loss of ability to coordinate muscular movement)
Quadriplegia (paralysis from the neck down)
Esotropia (strabismus)
Nystagmus (a type of abnormal eye movement)
Atrophy of the optic nerve
Psychomotor regression
Reduced mental function
Inability to perform normal activities
Changes in the susceptibility of skin which grows and spreads to the arms and
feet
 
Non-epileptic attacks, but attacks muscle tension that cause twisting of the body, head,arms and legsThese are metachromatic leukodystrophy symptoms.
Metachromatic Leukodystrophy Types and Treatment
 
There are four types of metachromatic leukodystrophy:
Late Infantile Form
 
 After a period of seemingly normal child growth anddevelopment, skills such as walking and speech may worsen. Illchildren have difficulty walking after the first year, usually around15-24 months old. Symptoms include irritability, muscle wastingand weakness, progressive loss of vision leading to blindness,swallowing disorders, paralysis and dementia.When clinical symptoms become noticeable, they often appear quickly andrapidly progress and in a short period change with thestabilization period until the next time a symptoms are activated.The child eventually becomes bedridden, unable to speak,cannot swallow, and with labored breathing. Attacks can occur which gradually disappear over time, cramps are common and very painful, the child is still ableto laugh, but in the end they become blind and do not react to the environment. Swallowingbecomes difficult and the tube feeding becomes necessary. There is no medication, mostchildren with this form of metachromatic leukodystrophy die by their fifth year, often muchearlier. Death usually occurs as a result of infections, such as pneumonia (pneumonia), and notfrom the metachromatic leukodystrophy.
Early Juvenile Form
 
It occurs in children aged 4-6 years, motor-functions are lost,and there is a problem with child behavior, irritability. Inability towalk, there is dysarthria (difficulty speaking) and pain in theextremities due to the involvement of peripheral nerves.This form has a slower progression and is identified by ataxia (itis a loss of ability to control all or some willing musclemovement, perturbation of balance or coordination of movements) and mental deficit. This leukodystrophy lifeexpectancy is 10 years from the start of symptoms.
Late Juvenile Form
 

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