Marinesco-Sjogren Syndrome
Marinesco-Sjogren Syndrome Causes
Marinesco-Sjogren syndrome is inherited in an autosomal recessive pattern. The causative factor in the genetic defect is not yet known.
Marinesco-Sjogren Syndrome 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.
Marinesco-Sjogren Syndrome Diagnosis
Diagnosis of Marinesco-Sjogren syndrome is usually based on the clinical symptoms present.
Marinesco-Sjogren Syndrome 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
Marinesco-Sjogren Syndrome 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.