Alström syndrome synonyms

Alström syndrome, also known as Alström-Hallgren syndrome, is a rare genetic disorder that affects multiple organ systems in the body. It is characterized by a variety of symptoms that typically appear in infancy or early childhood.

Individuals with Alström syndrome may experience progressive vision loss due to a condition called retinal dystrophy, which affects the light-sensitive tissue at the back of the eye. This can lead to blindness in some cases. Additionally, they may develop hearing loss or deafness as a result of sensorineural hearing impairment.

Another prominent feature of Alström syndrome is obesity, which typically begins in childhood and persists throughout life. This excessive weight gain is often accompanied by insulin resistance and type 2 diabetes. Individuals with Alström syndrome may also have high blood pressure and high cholesterol levels, increasing their risk of cardiovascular complications.

Furthermore, Alström syndrome can affect the endocrine system, leading to hypothyroidism and hypogonadism. It may also cause kidney dysfunction and liver abnormalities. Some individuals may develop respiratory problems such as shortness of breath or restrictive lung disease.

Alström syndrome is caused by mutations in the ALMS1 gene, which plays a role in the structure and function of various cell components. The inheritance pattern of this syndrome is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

Although there is currently no cure for Alström syndrome, management focuses on treating the individual symptoms and providing supportive care. Regular monitoring of vision, hearing, weight, blood glucose levels, and other affected systems is essential to prevent complications and optimize quality of life.