Fibrodysplasia ossificans progressiva is an inherited disease that causes finger deformities and mobility problems due to heterotopic ossification caused by inflammation or trauma. An associated genetic variant in the ACVR1 gene has been identified.
Symptoms
Clinical signs appear from the first months of life and progress progressively. The main signs include limb lameness and digital deformities. At the onset of the disease, stiffness affects the distal joints of the thoracic and pelvic limbs, up to the hip and shoulder joints. This stiffness results in reduced mobility. In addition, heterotopic bone deposits are seen in multiple joints.
Disease Management
The management of fibrodysplasia ossificans in cats lacks effective treatments. Most cases do not respond to treatment and lead to rapid debilitation and poor quality of life. However, the benefit of physical rehabilitation in improving the mobility and quality of life of affected cats is being studied.
Genetic basis
This disease follows an autosomal dominant mode of inheritance. Autosomal dominant inheritance means that cats only have to inherit one copy of the mutation or pathogenic variant to be at risk of developing the disease. Each kitten born to a parent carrying one copy of the mutation has a 50% chance of inheriting one copy of the mutation and being at risk for the disease. Breeding between cats carrying genetic variants that can cause disease is not recommended, even if they do not show symptoms.
Technical report
Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by heterotopic ossification, i.e. bone growth in abnormal locations resulting in progressive weakening and reduced mobility. The genetic variant described (c.617G>A) in cats is the same single nucleotide substitution that occurs in most human cases. This variant occurs in the activin A receptor type I gene (ACVR1), resulting in an amino acid substitution from arginine to histidine at codon 206.
Most affected breeds
Domestic Shorthair
Himalayan
Maine Coon
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