MASA syndrome
| MASA syndrome
| |
|---|---|
| Synonyms | CRASH syndrome
|
| Symptoms | Intellectual disability, Aphasia, Spastic paraplegia, Adducted thumbs
|
| Causes | Genetic mutation
|
| Diagnosis | Genetic testing
|
| Treatment | Supportive care
|
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
References[edit]
External Links[edit]
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