Marinesco–Sjögren syndrome

Marinesco-Sjogren Syndrome 1

Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive genetic disorder characterized by cerebellar ataxia, cataracts, intellectual disability, and myopathy. The syndrome was first described by Gheorghe Marinescu and Torsten Sjögren in the early 20th century.

Signs and Symptoms[edit | edit source]

Individuals with Marinesco–Sjögren syndrome typically present with:

Cerebellar ataxia: Impaired coordination and balance due to cerebellar dysfunction.
Congenital cataracts: Clouding of the lens of the eye present at birth.
Intellectual disability: Varying degrees of cognitive impairment.
Myopathy: Muscle weakness and wasting.
Short stature: Below-average height for age and sex.
Delayed motor development: Slower acquisition of motor skills such as walking.

Genetics[edit | edit source]

Marinesco–Sjögren syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The gene associated with MSS is SIL1, which encodes a protein involved in the proper folding of other proteins within the endoplasmic reticulum.

Diagnosis[edit | edit source]

Diagnosis of Marinesco–Sjögren syndrome is based on clinical evaluation, family history, and genetic testing. Key diagnostic features include the presence of cerebellar ataxia, cataracts, and intellectual disability. Genetic testing can confirm mutations in the SIL1 gene.

Management[edit | edit source]

There is no cure for Marinesco–Sjögren syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:

Physical therapy: To improve coordination and muscle strength.
Occupational therapy: To assist with daily living activities.
Surgical intervention: For cataract removal to improve vision.
Special education: To address learning disabilities and cognitive impairment.

Prognosis[edit | edit source]

The prognosis for individuals with Marinesco–Sjögren syndrome varies depending on the severity of symptoms. While the condition is progressive, supportive therapies can improve quality of life and functional abilities.