Definition:
Marinesco-Sjogren syndrome is a rare autosomal recessive disorder, which causes the destruction of the exocrine glands that is responsible for tear and saliva production.
Diagnosis:
Diagnosis of Marinesco-Sjogren syndrome is usually based on the clinical symptoms present.
Treatment:
Supportive treatment is the approach applicable to Marinesco-Sjogren syndrome including:
* Physical therapy
* Speech therapy
* Occupational therapy
* Special education (SPED)
Symptomatic treatment aimed at correcting manifested symptoms like removing the cataracts that impairs the vision or hormone replacement therapy for cases related to hypogonadism.
Symptoms and Signs:
Marinesco-Sjogren syndrome is commonly noticeable at birth because of poor muscle tone (Hypotonia). Other features of the disorder include:
* Balance and coordination problems
* Cataracts appearing rapidly during childhood
* Delayed motor milestones
* Poor linear growth
* Pubertal development is likely not to occur due to hypergonadotropic hypogonadism
* Mild to moderate mental retardation if present
* Slow ill-defined speech (dysarthria)
* Numerous skeletal defects like scoliosis
Less common features of Marinesco-Sjogren syndrome may include:
* Shortening of the fingers or toes due to underdevelopment of the bones in the hands or feet (brachydactyly)
* Optic atrophy
Causes:
Marinesco-Sjogren syndrome is inherited in an autosomal recessive pattern. The causative factor in the genetic defect is not yet known.
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