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Costeff syndrome

Costeff syndrome



Overview

Costeff syndrome, also known as 3-methylglutaconic aciduria type III, is a rare inherited metabolic and neuro-ophthalmological disorder characterized by early-onset vision loss due to optic nerve degeneration, followed later by movement difficulties.

Symptoms

Vision Symptoms

• Optic atrophy: Worsening vision and loss of visual acuity starting in infancy or early childhood.

• Nystagmus: Fast, involuntary eye movements.

• Strabismus: Eyes that do not line up or look in the same direction.

Movement and Neurological Symptoms

• Chorea: Involuntary, unpredictable body movements starting in late childhood.

• Ataxia: Poor muscle control and balance issues.

• Spasticity: Stiff muscles and tight reflexes (spastic paraparesis) that can worsen over time.

• Delayed milestones: Late walking or delayed motor skill development.

• Dysarthria: Difficulty speaking clearly.

Other Signs

• Cognitive impact: Many individuals have normal intelligence, though some experience mild-to-moderate intellectual disability.

• Biochemical marker: High levels of 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria).

Causes

• Gene Mutation: Changes or pathogenic variants in the OPA3 gene disrupt normal cellular and mitochondrial processes.

• Inheritance Pattern: It follows an autosomal recessive inheritance pattern. This means an affected individual must inherit one mutated copy of the gene from each parent.

• Population Prevalence: It is a rare disorder found predominantly—though not exclusively—in individuals of Iraqi-Jewish descent due to a specific founder mutation

Diagnosis

• Clinical Evaluation: Assessment for early-onset progressive optic atrophy (vision loss typically starting in early childhood), horizontal nystagmus, and extrapyramidal movement disorders like chorea developing before age ten.

• Biochemical Testing: Urine organic acid analysis showing elevated 3-methylglutaconic acid (3-methylglutaconic aciduria) and 3-methylglutaric acid.

• Molecular Genetic Testing: Single-gene testing or comprehensive panel sequencing of the OPA3 gene to detect pathogenic mutations (biallelic variants) confirming an autosomal recessive inheritance pattern

Treatment

• Visual Impairment: Evaluated and treated by an ophthalmologist, often utilizing visual aids and community vision services.

• Spasticity and Movement Disorders: Addressed with physical therapy, occupational therapy, stretching, and mobility devices (such as wheelchairs) to prevent contractures and falls.

• Feeding and Nutrition: Managed with feeding therapy for poor weight gain or swallowing difficulties.

Mitochondrial Toxins: Patients should strictly avoid tobacco, alcohol, and any medications known to impair mitochondrial function

Family Planning: Genetic counseling is recommended for affected individuals and their families because the condition is inherited in an autosomal recessive manner.

Type of Doctor Department : Ophthalmologist , Neurologist

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