Treatable Intellectual Disability

Wilson Disease

DIAGNOSIS

Gene
ATP7B (AR)

Diagnostic Test
Serum Copper & Ceruloplasmin, Urine Copper

Stacks Image 243

SIGNS & SYMPTOMS

Neurological
Dementia, depression/psychosis, behavioural disturbances, dystonia, Basal ganglia lesions (MRIscan)

Non-Neurological
Kayser-Fleischer rings, cardiomyopathy, hepatitis, cirrhosis, osteoporosis, hemolytic anemia

Stacks Image 244

THERAPY

Treatment
Zinc & Tetrathiomolybdate

Level of Evidence
1b

Clinical Practice
Standard of Care

Treatment Effect
Improves neurological & systemic manifestations



Stacks Image 245
Wilson Disease

Wilson Disease

is an autosomal recessive disorder characterised by the toxic accumulation of copper, mainly in the liver and central nervous system. It is a rare disease with an estimated incidence in France of between 1/30 000 and 1/100 000 new cases per year. The prevalence is estimated at 1 in 25 000. Symptomatic patients may present with hepatic, neurologic or psychiatric forms. (Source: Orphanet)

No information available from this source.

This disease is not (yet) listed on their website.