Test Detail

Idiopathic hypoparathyroidism with hypocalcaemia, tetany, fasciculations and poor performance; it may cause synchronous diaphragmatic flutter (thumps), laryngeal spasms and seizures. The nonsense variant in RAPGEF5 is a candidate causal variant. Inheritance probably autosomal recessive. The test is complementary to the clinical examination and the biochemical profile.

Pura sangre inglés. Frequencies: limited data.

- Hypocalcaemia with fasciculations and tetany
- Synchronous diaphragmatic flutter (thumps)
- Laryngeal spasms, dyspnoea or exercise intolerance
- Poor performance and weakness
- Seizures in severe cases

The dossier records OMIA:002458 and the variant RAPGEF5 NC_009147.3:g.54108297G>T (c.2624C>A; p.Ser875Ter). No author or year is stated.

- Avoid matings between carriers if recessive inheritance is confirmed
- Genotype breeding animals
- Identify lines with recurrent clinical cases

Differential diagnosis with exertional rhabdomyolysis syndrome (tying-up), hypomagnesaemia, electrolyte imbalance from sweating and myopathies. Complementary: ionised and total calcium, magnesium, PTH and ECG.

1. OMIA:002458 Hipoparatiroidismo (RAPGEF5) del caballo