INFANTILE CEREBELLAR-RETINAL DEGENERATION

The cover of 'Rare Disease Series #17 INFANTILE CEREBELLAR-RETINAL DEGENERATION'

About INFANTILE CEREBELLAR-RETINAL DEGENERATION

Chromosome 22 and the location of Infantile cerebellar-retinal degeneration related ACO2 gene.
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

Map background with silhouette of a baby, and words saying "Infantile cerebellar-retinal degeneration is known to affect less than 1 in 1,000,000 worldwide."
Prevalence
Infantile cerebellar-retinal degeneration is known to affect less than 1 in 1,000,000 worldwide.

Onset
The symptoms usually appear from the neonatal period to infancy.

SYMPTOMS

Seven symptoms of INFANTILE CEREBELLAR-RETINAL DEGENERATION: Developmental delay and intellectual disability, Truncal hypotonia, Athetosis, Seizures, Optic atrophy, Retinal dystrophy, Hearing and vision loss
The main characteristic symptoms include degeneration of ophthalmologic and nervous systems.

DIAGNOSIS

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.

INHERITANCE PATTERN

A family tree showing autosomal recessive inheritance pattern of Infantile cerebellar-retinal degeneration.
Infantile cerebellar-retinal degeneration has been found to inherit in an autosomal recessive pattern.

TREATMENTS

  1. ic-treatments-black@3x-3
  2. 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.