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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