INFANTILE CEREBELLAR-RETINAL DEGENERATION
About INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION(ICRD) is one of the rare neurodegenerative disorders affecting the brain and eyes.
The disease is derived from the defective ACO2 gene, causing hypotonia, seizures, athetosis, ophthalmologic abnormalities, and global developmental delay.
PREVALENCE / ONSET
Infantile cerebellar-retinal degeneration is known to affect less than 1 in 1,000,000 worldwide.
The symptoms usually appear from the neonatal period to infancy.
The main characteristic symptoms include degeneration of ophthalmologic and nervous systems.
The diagnosis of Infantile cerebellar retinal degeneration needs a team approach of a pediatrician, an ophthalmologist, and a neurologist.
After their clinical evaluation, a genetic test is necessary to confirm the causative genetic variant.
To learn more about detailed diagnosis story of a girl with Infantile cerebellar-retinal degeneration, read Diagnosis story of a girl diagnosed with Infantile cerebellar-retinal degeneration.
Infantile cerebellar-retinal degeneration has been found to inherit in an autosomal recessive pattern.
- Since there is no exact cure for Infantile cerebellar-retinal degeneration, only supportive care is known to be provided. Due to progressive neurological deterioration symptoms, the disease often leads to death at an early age.
Helpful communities for Infantile cerebellar retinal degeneration
Currently, no specific support groups are available. Visit the below websites to learn more about various support groups.