Musculoskeletal conditions

Spinal muscular atrophy

A neurodegenerative disorder closely mimicking human spinal muscular atrophy has been discovered in a family of Maine Coon cats. The onset of clinical signs occurs at 15-17 weeks of age. Clinical signs include fine muscle tremors and fascilculations (rippling of muscles), with progressive muscular weakness starting in the hindlimbs. Cranial nerves and mentation are normal, as are spinal reflexes.  Signs are progressive, although cats do seem to stabilize and can survive with an adequate quality of life if supported. Diagnostic studies including electromyography, nerve conduction studies, and nerve and muscle biopsies indicate a disorder of central neurogenic origin. The inheritance of this disorder in Maine Coon cats is autosomal recessive.

Information regarding this disease and the genetic test for the identification of carriers and affected animals is available at: http://medicine.ucsd.edu/vet_neuromuscular
He Q et al. Inherited motor neuron disease in domestic cats: A model of spinal muscular atrophy. Pediatric Research 2005:57;324-330.

Hip dysplasia and/or patellar luxation (*) - see general section click here...

Cardiovascular conditions

Hypertrophic cardiomyopathy (*)

In 2005 the first genetic mutation (of Myosin Binding Protein C [MYBPC]) was discovered in a colony of Maine Coon cats, and the first genetic test for HCM developed. However, it should be noted that in human beings with HCM, there are over 120 different genetic mutations which can cause this disease. Since the gene test for HCM was launched, approximately one third of cats with echocardiographic signs of HCM that have tested by gene test have tested positive for the mutation. Of these, (as of September 2006) only Maine Coons and their progeny had tested positive.  In addition, it has been found that there are many cats (including Maine Coons) diagnosed with HCM (on echocardiography) that are negative for the MYBPC mutation.  These cats are thought to have an as yet undiscovered mutation of one or more of the other structural proteins within the heart.

See www.fabcats.org/hcm for more information about the condition and echocardiographic scanning

Meurs K M et al (2005) A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Human Molecular Genetics 14, 3587-93

Haematological/immunological conditions

Bleeding disorders; Factor I and XI deficiency (r) – see general section click here...