ALSTRÖM SYNDROME

Alström (pronounced Al-strom) syndrome is part of a larger group of disorders known as rare genetic diseases of obesity.

What causes Alström syndrome?

Alström syndrome is caused by genetic variantsGENETIC VARIANTS Changes (also known as variants) in the standard “spelling” of a gene. Gene variants can result in serious health problems or be “silent” with no negative health effects., or changes, in the ALMS1 geneGENE Our body’s instruction manual that informs how our bodies grow, develop, and function. It is through our genes that traits are passed down from parent to offspring.. These changes disrupt signals signals Chemicals and proteins that the body and brain use to communicate and direct processes in the body. in the melanocortin-4 receptor (MC4R) pathwayMC4R PATHWAY The MC4R pathway is one of the pathways that regulates weight and appetite in the brain.. The MC4R pathway is an important pathway in the brain that helps tell your body when you are hungry and when you are full. The ALMS1 gene provides instructions for making a protein that is not fully understood, but scientists believe that this protein plays an important role in the maintenance and function of microscopic cilia. Cilia are tiny finger-like protrusions that allow our cells to move from one place to another, and help us see, hear, and smell.
Cilia are tiny, hair-like protrusions on the surface of our cells
Cilia are tiny, hair-like protrusions on the surface of our cells
 

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 dystrophyCONE-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 (photophobiaPHOTOPHOBIA 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 hormoneHORMONES 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 are not working the way they should. such as insulin resistance)
  • Dilated heart muscle (cardiomyopathyCARDIOMYOPATHY 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).

Alström syndrome is inherited in an autosomal recessiveAUTOSOMAL 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 “carriersCARRIERS 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.

Like many rare genetic diseases of obesity, Alström syndrome can be diagnosed on the basis of clinical findings. If Alström syndrome is suspected by your doctor based on clinical signs and symptoms, a genetic test can be ordered to help confirm a diagnosis.

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