MASA syndrome

MASA syndrome is a historical term that described a collection of signs now seen as part of the X-linked L1 clinical spectrum (also known as L1 syndrome). People with this condition often show mild to moderate intellectual deficits, delayed speech development, and muscle tone issues that can start as low muscle tone (hypotonia) and progress to spasticity or spastic paraplegia. Additionally, individuals with MASA syndrome may have adducted thumbs and mild to moderate enlargement of the brain's ventricular system. This condition has been studied as part of a broader group of disorders related to mutations in a specific gene, which helps explain its range of symptoms.

Common symptoms in people with MASA syndrome include mild to moderate intellectual disability and delays in speech development. They may experience low muscle tone during infancy that can progress to spasticity or spastic paraplegia as they grow. Additionally, adducted thumbs and moderate enlargement of the cerebral ventricles have been noted.

MASA syndrome is caused by mutations in the L1CAM gene. The condition is inherited in an X-linked manner, which means that changes in a gene on the X chromosome are responsible for the symptoms seen in people with this condition. This genetic link places MASA syndrome within the wider group of disorders known as the L1 clinical spectrum or L1 syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.