What is Laurence-Moon syndrome?
Laurence-Moon syndrome is a rare genetic condition that affects many different organ systems in the body but is primarily associated with retinitis pigmentosa, progressive weakness and stiffness of the legs (spastic paraplegia), and mental disabilities.
Until recently, Laurence-Moon syndrome was thought to be one and the same with Bardet-Biedl syndrome, but researchers just determined that the two conditions are actually separate.
What causes Laurence-Moon syndrome?
Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene. These mutations are inherited in autosomal recessive patterns.
What are the symptoms of Laurence-Moon syndrome?
In addition to the characteristics listed above, the following are also associated symptoms of Laurence-Moon syndrome:
- Mental retardation
- Hearing loss
- Polydactyly (extra fingers or toes)
- Renal insufficiency
How is Laurence-Moon syndrome diagnosed?
Similar to Bardet-Biedl syndrome, Laurence-Moon syndrome is diagnosed following a thorough clinical evaluation and a review of patient and family history. After an observation of the characteristic signs and symptoms of the condition, molecular genetic testing can confirm a diagnosis.
What are the available treatments for Laurence-Moon syndrome?
Currently, there is no cure available for Laurence-Moon syndrome, so treatment is symptomatic and supportive.