What causes Alström syndrome?
What are the key clinical features of Alström syndrome?
It is important to remember that the symptoms of Alström syndrome can develop at different times for different people. Not all people have the same symptoms. In fact, symptoms can vary even among siblings.
You don’t have to have all of the symptoms on the list below in order to be diagnosed with Alström syndrome. The main signs and symptoms of Alström syndrome include:
- Poor vision (cone-rod dystrophy CONE-ROD DYSTROPHY A condition that causes light-sensing cells in the retina (the back part of the eye) to not work properly, leading to progressive vision loss.)
- Sensitivity to light (photophobia PHOTOPHOBIA Increased sensitivity to light.)
- Uncontrolled movement of the eye (nystagmusNYSTAGMUS Uncontrolled movements of the eye.)
- Severe early-onset obesity (<1 year old)
- Insatiable hunger
- Short stature
- Progressive hearing loss (before age 10)
- Abnormal hormone HORMONE Chemical messengers made in the endocrine glands that control body functions. levels (endocrine abnormalitiesENDOCRINE ABNORMALITIES The endocrine system is made of organs, glands, and hormones that tell the body how to do its job. This system influences how your heart beats, how you use the food you eat, how you grow, and many other important body functions. An endocrine abnormality means that one or more parts of the system is not working the way it should. such as insulin resistance)
- Dilated heart muscle (cardiomyopathy CARDIOMYOPATHY A condition where the heart is abnormally enlarged, which compromises its ability to pump blood to the rest of the body.)
- Liver disease
- Progressive kidney disease
Additional signs and symptoms
Babies with Alström syndrome are typically of average weight at birth, but begin to rapidly gain weight within the first weeks of life. Weight gain usually continues into adult life, though some people might see their weight normalize after their teenage years. Almost 98% of teenagers with Alström syndrome are in the 5th percentile or less for height.
Children and teenagers may also experience hearing loss, an enlarged heart, liver, or spleen, insulin resistance syndrome, type 2 diabetes, and end-stage renal disease (ESRD).
How is Alström syndrome inherited?
Alström syndrome is inherited in an autosomal recessive AUTOSOMAL RECESSIVE Autosomal recessive (AR) conditions occur when a person inherits two non-working copies of a disease-causing (pathogenic) gene variant from their parents. manner. This means that someone with Alström syndrome will have two copies of the genetic variant that causes the disorder. You can only inherit an autosomal recessive disorder if both of your parents are “carriers CARRIERS In an autosomal recessive inheritance pattern, if an individual inherits one normal copy of a gene and one copy of a disease-causing variant, they are called a carrier and will generally not have any symptoms of the disease that variant causes.” for that disorder, meaning that they both carry one copy with the genetic variant and one copy without it.
How is Alström syndrome diagnosed?
Like many rare genetic diseases of obesity, Alström syndrome can be diagnosed on the basis of clinical findings. If Alström syndrome is clinically suspected, a blood test can be ordered for genetic testing to help confirm the diagnosis.
Could I be affected?
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