From the Research
MASA syndrome is a rare genetic disorder characterized by mental retardation, aphasia, shuffling gait, and adducted thumbs, caused by mutations in the L1CAM gene located on the X chromosome, making it an X-linked recessive condition that primarily affects males. The syndrome presents with intellectual disability of varying severity, speech difficulties (aphasia), abnormal walking patterns with a shuffling gait, and thumbs that are bent inward toward the palm (adducted) 1. Additional features may include hydrocephalus, spasticity in the lower limbs, and corpus callosum abnormalities, as reported in a family with three males with MASA syndrome, where one patient demonstrated spastic paraplegia and psychomotor retardation but no adducted thumbs 2.
Clinical Features
The clinical features of MASA syndrome can vary, as demonstrated by a family with two males who had the phenotype of MASA syndrome, with two adult brothers and their nephew affected, and a separate family with X-linked recessive spastic paraplegia and mental retardation, which was linked to the same markers on Xq28 1, 3. The syndrome has been linked to the Xq28 region, with a lod score of 2.86 and no recombination, as confirmed by DNA studies in a family with five males in two generations with borderline to mild mental retardation, speech delay, spastic paraplegia, adducted thumbs, and marked hydrocephalus 4.
Treatment and Management
There is no cure for MASA syndrome, and treatment focuses on managing symptoms through multidisciplinary care, including:
- Physical therapy
- Occupational therapy
- Speech therapy
- Special education services Neurosurgical intervention may be required for hydrocephalus, as reported in a family with a male who died at the age of 15 years from congenital hydrocephalus 5. Genetic counseling is important for affected families, as mothers who carry the mutation have a 50% chance of passing it to each son, who would be affected, and to each daughter, who would be a carrier. Early intervention is crucial to maximize developmental potential and improve quality of life for individuals with this condition. Genetic counseling and early intervention are essential to improve the quality of life for individuals with MASA syndrome.