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.
The juvenile form of metachromatic leukodystrophy is characterized by gait disturbances, urinary incontinence, mental deterioration, and emotional difficulties
Liver and kidney falure.
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.
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
Canavan disease in Ashkenazi Jews, or globoid cell leukodystrophy (GLD) and metachromatic leukodystrophy (MLD) in Scandinavians.
Death usually results within five years after the onset of clinical symptoms
Metachromatic leukodystrophy is a rare genetic disorder that affects the central nervous system, leading to the breakdown of myelin. Symptoms may include muscle weakness, cognitive decline, and vision and hearing loss. Without treatment, it can result in severe disability and premature death.
Physical therapists, occupational therapists, orthopedists, ophthalmologists, and neuropsychologists are often involved in helping maintain optimal function for as long as possible.
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
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
Sulfatide accumulates in the brain and other areas of the body such as the liver, gall bladder, kidneys, and/or spleen. The buildup of sulfatide in the central nervous system causes demyelination
the primary early symptoms are speech difficulties, gait disturbance, behavioral problems, and intellectual decline. The disease progresses rapidly; seizures, blindness, and severe muscle contractions may occur