Juberg-Hayward syndrome
Juberg-Hayward Syndrome
Juberg-Hayward Syndrome (pronounced: JOO-berg HAY-ward sin-drome), also known as Mental Retardation-Spasticity-Hyperpigmentation Syndrome, is a rare genetic disorder characterized by intellectual disability, spasticity, and hyperpigmentation of the skin.
Etymology
The syndrome is named after Dr. Richard C. Juberg and Dr. John P. Hayward, who first described the condition in 1972.
Definition
Juberg-Hayward Syndrome is a rare genetic disorder that affects multiple systems in the body. The primary symptoms include intellectual disability, spasticity, and hyperpigmentation of the skin. Other symptoms may include seizures, microcephaly (small head size), and hypotonia (low muscle tone).
Symptoms
The symptoms of Juberg-Hayward Syndrome can vary greatly from person to person. However, the most common symptoms include:
- Intellectual Disability: This is a significant limitation in intellectual functioning and adaptive behavior. It affects the person's ability to learn, reason, and problem solve.
- Spasticity: This is a condition in which certain muscles are continuously contracted, causing stiffness or tightness of the muscles and can interfere with normal movement and speech.
- Hyperpigmentation: This is a condition that causes patches of skin to become darker than the surrounding skin due to an excess of melanin, the brown pigment that produces normal skin color.
Causes
Juberg-Hayward Syndrome is caused by mutations in a gene. The exact gene responsible for the syndrome is currently unknown. It is believed to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Treatment
There is currently no cure for Juberg-Hayward Syndrome. Treatment is symptomatic and supportive, and may include physical therapy for spasticity, special education for intellectual disability, and medication for seizures.
See Also
External links
- Medical encyclopedia article on Juberg-Hayward syndrome
- Wikipedia's article - Juberg-Hayward syndrome
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