What are ciliopathies?

Ciliopathies are complex disorders caused by genetic mutations which result in defective or dysfunctional cilia in many organs of the human body.


Alström Syndrome

Alström Syndrome is a very rare recessively inherited condition which affects the metabolism of many major organs, particularly the heart, lungs, kidneys and liver.

Because the condition unfolds gradually from birth and the different manifestations vary from individual to individual, correct diagnosis is often delayed leading to suboptimal treatment and a failure to anticipate future developments. There are presently just over 1000 cases known worldwide and approximately 100 in the UK although the history of poor diagnosis referred to above almost certainly hides many more.

Alström Syndrome is characterised principally by a number of key conditions:

  • Retinal degeneration (Rod Cone Dystrophy, Nystagmus and Photophobia)
  • Sensorineural hearing loss (ranging from a mild, moderate to severe loss
  • Obesity
  • Insulin resistance

Additional features can include:

  • Cardiomyopathy (poor cardiac function where the heart muscle is weakened and enlarged
  • Type 2 diabetes
  • Renal and hepatic dysfunction (affecting the kidneys and liver)
  • Hypertriglyceridaemia and tryglycerides (elevation of fatty substances found in the bloodstream)

How is Alström Syndrome diagnosed?

Dilated cardiomyopathy is often detected in young babies and often leads to premature death. Kidney failure may also occur. During childhood, patients suffer deteriorating eyesight which may include nystagmus and photophobia which often leads to blindness. Hearing loss and Type 2 diabetes is also common.

Find out more about Alström Syndrome

NCBI/NIH/PubMed references

Useful links

Alström Syndrome Support Group UK  

Last updated 161122