Which are the symptoms of Alström syndrome?

Alström syndrome is a rare genetic disorder that affects multiple organ systems in the body. It is characterized by a wide range of symptoms that can vary in severity from person to person. The syndrome is caused by mutations in the ALMS1 gene, which is responsible for producing a protein involved in the development and function of various organs.

Vision problems are one of the earliest and most common symptoms of Alström syndrome. Individuals with the condition often experience photophobia (sensitivity to light) and nystagmus (involuntary eye movements). They may also develop retinal dystrophy, a progressive degeneration of the retina that can lead to vision loss or blindness over time.

Another prominent feature of Alström syndrome is hearing loss. This can be present from birth or develop later in childhood. The hearing loss is typically sensorineural, affecting the inner ear and the auditory nerve. It may be progressive and can lead to complete deafness in some cases.

Obesity is a common symptom in individuals with Alström syndrome. It usually begins in early childhood and persists throughout life. The exact cause of the obesity is not fully understood, but it is thought to be related to abnormalities in the regulation of appetite and metabolism. The excessive weight gain can lead to diabetes and insulin resistance in some individuals.

Alström syndrome also affects the endocrine system. It can cause hypothyroidism, a condition in which the thyroid gland does not produce enough thyroid hormone. This can lead to symptoms such as fatigue, weight gain, dry skin, and constipation. Additionally, individuals with Alström syndrome may experience hypogonadism, which is characterized by underdeveloped or absent reproductive organs and reduced fertility.

Cardiovascular abnormalities are also common in Alström syndrome. These can include hypertrophic cardiomyopathy (enlargement of the heart muscle), congestive heart failure, and arrhythmias (abnormal heart rhythms). These cardiac complications can be life-threatening and require careful monitoring and management.

Other symptoms that may be present in individuals with Alström syndrome include hepatomegaly (enlarged liver), renal dysfunction (impaired kidney function), pulmonary fibrosis (scarring of lung tissue), and skeletal abnormalities. Some individuals may also have intellectual disability or learning difficulties.

It is important to note that the symptoms of Alström syndrome can vary widely between individuals, even among affected family members. The age of onset and the severity of symptoms can also differ. Therefore, a comprehensive evaluation by a medical professional experienced in the diagnosis and management of rare genetic disorders is crucial for accurate diagnosis and appropriate management.