MASA syndrome is a rare neurological disorder that is characterized by mental retardation, aphasia (difficulty with language), spasticity (stiffness of the muscles), adducted thumbs (thumbs that are bent inward), and shuffling gait (a type of walking pattern). It is caused by a mutation in the X-linked MASA gene.

The symptoms of MASA syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Cleft lip and/or palate
-Abnormalities of the hands and feet
-Abnormalities of the spine
-Abnormalities of the kidneys and urinary tract
-Abnormalities of the heart and blood vessels
-Abnormalities of the gastrointestinal tract
-Abnormalities of the skin

MASA syndrome is caused by a mutation in the X-linked PLP1 gene. This gene is responsible for producing the enzyme proteolipid protein 1 (PLP1), which is essential for the normal development of the central nervous system. Mutations in this gene can lead to a variety of neurological problems, including MASA syndrome.

The treatment for MASA syndrome is primarily supportive. This includes physical therapy, occupational therapy, speech therapy, and other therapies to help the individual reach their highest level of functioning. In some cases, medications may be prescribed to help manage symptoms such as seizures or spasticity. Surgery may also be recommended to help improve mobility and reduce pain.

The primary risk factor for MASA syndrome is a genetic mutation in the SRD5A3 gene. Other risk factors include a family history of MASA syndrome, a history of premature birth, and a history of maternal infections during pregnancy.

At this time, there is no known cure for MASA syndrome. However, there are medications that can help manage the symptoms of the disorder. These medications include anticonvulsants, muscle relaxants, and medications to help with sleep. Additionally, physical and occupational therapy can help improve muscle strength and coordination.