Nakajo syndrome
Nakajo syndrome (pronounced: na-ka-jo syn-drome) is a rare genetic disorder characterized by progressive muscle weakness, skin abnormalities, and distinctive facial features.
Etymology
The syndrome is named after the Japanese physician, Dr. Nakajo, who first described the condition in 1939. The term "syndrome" is derived from the Greek word "syndromos" which means "running together," referring to the group of symptoms that occur together and characterize a particular abnormality or condition.
Symptoms
The primary symptoms of Nakajo syndrome include:
- Progressive muscle weakness: This is a gradual loss of muscle strength and function over time.
- Skin abnormalities: These can include hard, thick skin and changes in skin color.
- Distinctive facial features: These can include a narrow face, small lower jaw, and drooping lower eyelids.
Causes
Nakajo syndrome is caused by mutations in the PSMB8 gene. This gene provides instructions for making a protein that is part of a complex called the proteasome, which breaks down unneeded or damaged proteins in cells.
Diagnosis
Diagnosis of Nakajo syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.
Treatment
There is currently no cure for Nakajo syndrome. Treatment is symptomatic and supportive, and may include physical therapy, medications to manage symptoms, and regular monitoring of the condition.
See also
External links
- Medical encyclopedia article on Nakajo syndrome
- Wikipedia's article - Nakajo syndrome
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