Indicators Of Metachromatic Leukodystrophy

Metachromatic leukodystrophy is a genetic condition that occurs due to an enzyme deficiency. Patients with this disorder have an accumulation of lipids (fat deposits) in the white matter of the brain. Lipids also accumulate in the spinal cord and along the peripheral nerves. The condition is frequently caused by a mutation on a gene called arylsulfatase A or sulfatide sulfatase. Metachromatic leukodystrophy has four different types. The first type (infantile form) develops within the first year of life, and the second type (late infantile form) presents in the first two years of life. Patients with the third type (juvenile form) begin to show symptoms between the ages of three and sixteen, and individuals with the fourth type (adult form) exhibit the first signs after sixteen years old. Each form of the disease has different symptoms. The particular type of metachromatic leukodystrophy a patient has is almost always the same type their family members have. The life expectancy for patients with the infantile forms of this disease is generally around two to seven years after diagnosis, and patients with the juvenile form normally survive up to eight years post-diagnosis. The adult form of metachromatic leukodystrophy has a life expectancy of between one to three decades after diagnosis. To diagnose this condition, doctors start by performing a physical examination. Blood and urine tests are needed to check for an enzyme deficiency, and patients may also have nerve conduction studies to assess nerve damage, a frequent symptom in patients with metachromatic leukodystrophy. Genetic testing, MRI scans, and cognitive assessments may all be useful in diagnosis.

The signs discussed below are commonly seen in patients with metachromatic leukodystrophy.

Muscle Rigidity

Muscle rigidity is the painful cramping and stiffness of the muscles, and it is seen in all forms of metachromatic leukodystrophy. The degree of rigidity can vary in severity, and it gets worse as the disease progresses. Rigidity in the muscles causes the patient to have difficulty with walking and other motor skills, and they often become bedridden. For most metachromatic leukodystrophy patients, muscle rigidity is accompanied by weakness, abnormal postures, and tremors. Patients may also have hypotonia (decreased muscle tone) and an increase in reflex responses. In the final stages of the disease, paralysis may occur. Muscle rigidity causes problems with feeding, and patients generally require a feeding tube placed directly into the digestive system. Patients with muscle rigidity typically also have muscle spasms, and these occur most frequently in the neck, spine, and limbs.

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Developmental Delays

Developmental delays, which are common in metachromatic leukodystrophy, are typically noticed after problems with motor skills begin. In the late infantile form of this condition, speech and overall cognition are both impacted. Patients with the juvenile form may experience cognitive symptoms before motor skills are affected. The first sign is normally a period of unexplained behavioral outbursts, and the patient then has a complete lack of memory about these and other recent events. Social skills will decline, and patients will lose the ability to follow simple directions and sequences. Speech becomes slurred, and the patient may begin talking less than usual. These developmental delays become progressively worse, and they cannot be treated with therapies. As the disease advances, patients lose the intellectual skills they previously had.

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Vision Loss

Many patients with all types of metachromatic leukodystrophy experience visual changes that gradually lead to complete vision loss. Vision issues are generally more pronounced in the infantile forms of this condition. Vision loss may be preceded by other eye issues, including nystagmus (abnormal eye movements) and esotropia. Doctors can assess vision problems and the severity of vision loss with a comprehensive eye exam. Loss of vision usually starts with the inability to read text, and patients then have trouble seeing colors and photographs or drawings. As loss of vision advances, patients lose the ability to identify people at a distance, and they may have holes in their vision that prevent them from seeing areas in the center of their visual field or in the periphery. Eventually, patients will only be able to see light and dark; finally, they will not be able to see light. To help patients with loss of vision, caregivers may wish to read to them, and glasses may enable some patients to overcome visual deficits for a period.

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Difficulty Swallowing

Difficulty swallowing can affect both speech and feeding for patients with metachromatic leukodystrophy. Swallowing problems often progress rapidly. In many cases, the swallowing difficulties become so severe that patients cannot eat normally and must rely on a feeding tube for nourishment. The feeding tube is the safest option for feeding patients with this condition; trying to eat regularly increases the risk of choking to an unacceptably high level. To help metachromatic leukodystrophy patients with swallowing difficulties receive nourishment, doctors typically place either a J-tube or a G-tube directly into the digestive system, allowing nutrition to be readily absorbed. The tube placement requires a small surgical procedure, and the patient's caregiver must be instructed as to how to clean the tube and properly administer the formula into the tube.

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Dementia

Cognitive decline and memory loss are common in the final stages of all forms of metachromatic leukodystrophy, and dementia is particularly pronounced in patients with the adult form of the condition. For these patients, dementia may be accompanied by psychotic episodes, and they may also have personality changes and display poor judgment. Many patients experience a sense of bewilderment, and anxiety and depression frequently develop. Patients gradually become less alert, and adult patients exhibit declining performance in jobs and schoolwork. Adults with metachromatic leukodystrophy are sometimes misdiagnosed as having schizophrenia or depression, and they may use alcohol or drugs to mask their symptoms. Eventually, the cognitive decline and dementia associated with metachromatic leukodystrophy will result in the patient losing continence and becoming bedridden. Patients often forget how to eat and lose control over other motor skills too.