Cherry Red Spot Myoclonus Syndrome, also known as Cherry Red Spot Myoclonus Syndrome of the Eye, is a rare genetic disorder that affects the nervous system. It is characterized by the presence of a cherry red spot on the retina, which can be observed during an eye examination. This distinctive feature is caused by the accumulation of lipid (fatty) material in the cells of the retina, resulting in the appearance of a reddish oval or circular spot surrounded by a pale ring.
The syndrome is also associated with myoclonus, which refers to sudden, involuntary muscle contractions or jerks. These myoclonic movements can affect various parts of the body, including the limbs, face, and trunk. Individuals with Cherry Red Spot Myoclonus Syndrome may experience a wide range of severity in terms of the myoclonus and other accompanying symptoms.
Other symptoms that may be present in individuals with this syndrome include cognitive impairment, delayed development, seizures, ataxia (lack of muscle coordination), and respiratory problems. The age of onset and progression of symptoms can vary among affected individuals.
Cherry Red Spot Myoclonus Syndrome is caused by mutations in certain genes, including the TPP1 and CTSD genes. These mutations disrupt the function of specific enzymes responsible for breaking down lipids in cells. As a result, lipid material accumulates in various tissues throughout the body, including the retina.
Treatment options for Cherry Red Spot Myoclonus Syndrome are limited and mainly focus on managing the symptoms. These may include medications to reduce myoclonus and control seizures, physical therapy to improve motor skills and coordination, and supportive care to address other associated symptoms. Genetic counseling may be recommended for individuals and families affected by this syndrome, as it is inherited in an
