MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome.

Signs and symptoms

The acronym "MASA" stands for the four main signs and symptoms associated with the syndrome: (1) mental retardation (mild to moderate intellectual disability), (2) aphasia (delayed onset of speech), (3) shuffling gait, and (4) adducted thumbs characterized by cleft palate, microcephaly, and dysmyelination. Affected males may also have a variable dilatation (widening) of the third heart ventricle. Spasticity of the lower limbs, causing the muscles to stiffen or tighten, preventing normal fluid movement. Aphasia, which is when someone loses the ability to understand or express speech, due to brain damage. Seizures, an abrupt, uncontrolled disturbance in the brain. Lastly, agenesis of the corpus callosum, a rare congenital disorder. It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres.

Genetics

MASA syndrome has been associated with variants in the L1CAM gene The symptoms are typically more intensive in males, due to the fact that males inherit only one X chromosome so a mutation in that one chromosome would cause the condition. Females are less likely to be affected because they have two X chromosomes. The prevalence is approximately 1 in 30,000 males. Fathers cannot pass the chromosomes to their sons, but only to their female offspring.

Diagnosis

A diagnosis can be made when the clinical features have been identified, mainly the four common signs and symptoms. This can then be confirmed by single-gene sequencing, where the L1CAM gene is examined for any possible variations.

Treatment

As of now, the only treatment for this disease is expertise in pediatrics, child neurology, neurosurgery, rehabilitation, and medical genetics. As some parts of the body can be damaged through time to time it can be useful to have the expertise to identify what other ways they can help for the complete health of the child.

Previous cases

The first case of the MASA Syndrome was found in a boy in Asia. The patient was a 10-year-old boy with symptoms like, mild intellectual disability, bilateral adducted thumbs and corpus callosum hypoplasia. His family did not have any history with MASA syndrome. There is not just one specific doctor or scientist for this disorder. Since the L1 syndrome is composed of many X-linked disorders, more than one doctor or scientist may find the disorder in a person. Most of the doctors who find the disorder are Neuroscientists and some Pediatric Neurology specialists.

References

  • GeneReview/NIH/UW entry on L1 Syndrome