E75.02

Clinical Causes: Genetic mutation inherited in an autosomal recessive pattern Both parents must carry and pass on the defective gene Absence or severe deficiency of the HEXA enzyme Mutations in the HEXA gene on chromosome 15

Key Symptoms: Loss of motor skills such as sitting, crawling, and walking Muscle weakness and decreased reflexes Vision and hearing loss Cherry-red spot in the retina (a characteristic eye finding) Seizures Increased startle reaction Difficulty feeding, excessive choking, and swallowing problems Progressive neurodegeneration leading to paralysis Loss of cognitive ability, leading to intellectual disability In infantile forms, symptoms typically manifest between 3 to 6 months of age

Diagnosis Path: Diagnosis of Tay-Sachs disease involves a combination of clinical evaluation and laboratory testing: - Blood test to measure HEXA enzyme activity - Genetic testing to identify mutations in the HEXA gene - Chest X-rays and MRI may assess brain involvement - Ophthalmologic examination to detect the characteristic cherry-red spot - Newborn screening programs in some regions help identify the disorder early Early diagnosis is vital for symptom management and genetic counseling for affected families.

Treatment Protocols: Currently, there is no cure for Tay-Sachs disease. Treatment focuses on alleviating symptoms and improving quality of life: - Supportive care including physical and occupational therapy - Medications to manage seizures and reduce discomfort - Nutritional support to address feeding difficulties - Airway management to prevent respiratory complications - Research includes gene therapy and enzyme replacement approaches, but these are not yet standard treatments Since the disease is progressive, ongoing medical support and supportive therapies are essential for affected individuals and their families.