MASA syndrome

X-linked recessive (carrier mother)

MASA syndrome is a rare genetic disorder that primarily affects males. The name MASA is an acronym derived from the main clinical features of the syndrome: intellectual disability, Aphasia, Spastic paraplegia, and Adducted thumbs. It is also known as CRASH syndrome.

Signs and Symptoms

Individuals with MASA syndrome typically present with:

• Intellectual disability
• Aphasia, which is a language disorder that affects a person's ability to communicate
• Spastic paraplegia, a condition characterized by stiffness and weakness of the legs
• Adducted thumbs, where the thumbs are held in a flexed position across the palm

Genetics

MASA syndrome is caused by mutations in the L1CAM gene, which is located on the X chromosome. This gene is responsible for encoding a protein that is crucial for the development of the nervous system. Because the gene is located on the X chromosome, MASA syndrome follows an X-linked recessive inheritance pattern. This means that males are predominantly affected, while females may be carriers of the mutation.

Diagnosis

The diagnosis of MASA syndrome is typically made based on clinical features and confirmed through genetic testing to identify mutations in the L1CAM gene.

Treatment

There is no cure for MASA syndrome, and treatment is primarily supportive. Management may include:

• Physical therapy to improve mobility and muscle strength
• Speech therapy to address language and communication difficulties
• Occupational therapy to assist with daily living activities

Related Conditions

MASA syndrome is part of a spectrum of disorders associated with mutations in the L1CAM gene, which also includes X-linked hydrocephalus and X-linked complicated corpus callosum agenesis.

See Also

• Genetic disorder
• X-linked recessive inheritance
• L1CAM

External Links

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