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Liver and kidney falure.
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What are the characteristics of the juvenile form of metachromatic leukodystrophy?
The juvenile form of metachromatic leukodystrophy is characterized by gait disturbances, urinary incontinence, mental deterioration, and emotional difficulties
What is metachromatic leukodystrophy?
Metachromatic leukodystrophy (MLD) is a rare degenerative neurological disease affecting the fatty covering that acts as an insulator around nerve fibers known as the myelin sheath.
What are the characteristics of adult metachromatic leukodystrophy?
Adult metachromatic leukodystrophy is characterized by emotional disturbances and psychiatric symptoms. Disorders of movement and posture appear later. Dementia and decreased visual function also occur.
What kind of inherited condition is Metachromatic leukodystrophy?
Metachromatic leukodystrophy (MLD), also called sulfatide lipidosis and arylsulfatase A (ARSA) deficiency, is inherited as an autosomal recessive trait, due to mutations in the arylsulfatase A (ARSA) gene
Whatv types of Leukodystrophy are seen in certain ethnic groups?
Canavan disease in Ashkenazi Jews, or globoid cell leukodystrophy (GLD) and metachromatic leukodystrophy (MLD) in Scandinavians.
What are the possible effects of metachromatic leukodystrophy?
With destruction of the myelin sheath, progressive deterioration of muscle control and intellectual ability occurs
What is the prognosis for children with the late infantile form of metachromatic leukodystrophy?
Death usually results within five years after the onset of clinical symptoms
What is the prognosis for patients with the juvenile form of metachromatic leukodystrophy?
In the early juvenile form of MLD, although progression is less rapid, death usually occurs within 10-15 years of diagnosis, and most young people with the disease die before the age of 20
What rehabilitation do metachromatic leukodystrophy patients undergo?
Physical therapists, occupational therapists, orthopedists, ophthalmologists, and neuropsychologists are often involved in helping maintain optimal function for as long as possible.
What are the symptoms of infantile metachromatic leukodystrophy?
The infant displays irritability and an unstable walk. As the disease progresses, physical and mental deterioration occur and muscle wasting eventually gives way to spastic movements
What is the treatment for metachromatic leukodystrophy?
In infants neurocognitive function may be stabilized, while persons with the juvenile and adult forms of MLD and with mild symptoms are more likely to be stabilized with bone marrow transplantation
What types of professionals are involved in the treatment of metachromatic leukodystrophy?
The treatment team usually involves a neurologist , a pediatrician, an ophthalmologist, an orthopedist, a genetic counselor, a neurodevelopmental psychologist and a genetic and/or metabolic disease specialist
