Cavalier King Charles Spaniel Pack 2: Muscular Dystrophy (MD), Episodic Falling (EF), Macrothrombocytopenia (MTC), Degenerative Myelopathy (DM exon 2), Dry Eye Curly Coat Syndrome (CCS)
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Panel ampliado de raza del cavalier King Charles spaniel que combina cinco condiciones hereditarias: distrofia muscular ligada al X por defecto de la distrofina (MD, modelo canino de Duchenne), episodic falling (EF, crisis hipertónicas), macrotrombocitopenia (MTC, macroplaquetas y trombocitopenia asintomática), mielopatía degenerativa (DM, variante del exón 2 de SOD1) y síndrome dry eye curly coat (CCS, ojo seco + pelo rizado + ictiosis). El panel permite una estrategia de cría conjunta para varias condiciones prevalentes en la raza.
Diseases included in this pack
Episodic Falling (Cavalier King Charles Spaniel) (Autosomal recessive.)
Hereditary paroxysmal neurological disorder of the Cavalier King Charles Spaniel in which episodes of muscle hypertonia and limb rigidity cause falls or 'locking' while walking, with spontaneous recovery. It is caused by a deletion in the BCAN gene, which encodes brevican, an extracellular matrix proteoglycan of the…
Dry Eye Curly Coat Syndrome (CCS) Cavalier King Charles Spaniel (Autosomal recessive (OMIA:001683-9615).)
Congenital syndrome described in the Cavalier King Charles Spaniel combining keratoconjunctivitis sicca (tear deficiency) and ichthyosis or ichthyosiform dermatosis, with an altered curly coat. It is caused by a deletion in the FAM83H gene and is inherited in an autosomal recessive manner. Affected animals require l…
Canine Degenerative Myelopathy exon 2 (All Breeds) (Autosomal recessive with age-dependent and incomplete penetrance)
Neurodegenerative disease of the spinal cord, the canine equivalent of human amyotrophic lateral sclerosis (ALS) due to SOD1 mutations. The classic variant (exon 2 of the SOD1 gene, described in 'all breeds') produces a dysfunctional superoxide dismutase 1 and degeneration of the long spinal tracts, with progressive…
Muscular Dystrophy (MD) Cavalier King Charles (Recessive X-linked)
Duchenne muscular dystrophy is a progressive myopathy caused by the absence of dystrophin due to variants in the DMD gene. At least two causal variants have been described in the Cavalier King Charles Spaniel and it presents with weakness, muscle atrophy and marked elevation of creatine kinase. It is inherited in a…
Macrothrombocytopenia (MTC) (Autosomal recessive in the Cavalier King Charles spaniel (asymptomatic idiopathic thrombocytopenia); in the Cairn and Norfolk terrier the inheritance of TUBB1-associated macrothrombocytopenia is not fully established.)
Hereditary thrombopathy characterised by giant platelets (macrothrombocytes) and moderate thrombocytopenia, caused by variants of the TUBB1 gene (β1-tubulin), a component of the platelet microtubule ring. The alteration prevents correct fragmentation of megakaryocytes and gives rise to large, few platelets. Platelet…
Frequently asked questions
What does this pack include?
It includes 5 hereditary disease tests: Episodic Falling (Cavalier King Charles Spaniel), Dry Eye Curly Coat Syndrome (CCS) Cavalier King Charles Spaniel, Canine Degenerative Myelopathy exon 2 (All Breeds), Muscular Dystrophy (MD) Cavalier King Charles…. All are analysed in our laboratory.
What do the results mean?
The report shows the genotype and inheritance pattern of each variant. It is a breeding-decision tool: it guides which crosses to avoid, it does not guarantee the absence of disease.
How is the sample taken?
Buccal swab or 0.5–1 ml EDTA blood. The kit ships free to Spain, the EU and the UK.
