Muscle biopsy in the diagnosis of flexural deformities (FD) in foals

Flexural Deformities (FD) are a common disease in foals. Therapy is routinely established in absence of a precise diagnosis and etiopathogenesis is usually unknown. In infants with weakness and/or contractures a complete diagnostic algorithm is performed to identify the etiology and, afterwards, to begin the most appropriate therapy. Neuromuscular etiology has been supposed. Aims of the study were to evaluate the role of the congenital neuromuscular diseases in etiology and pathogenesis of FD, to suggest a diagnostic algorithm and to verify the clinical usefulness of the muscular biopsy in the diagnostic iter . Affected foals were clinically examined. Routine haematological and biochemistry analysis were performed. Muscular biopsies were collected. Described therapy was administrated. Ten foals were examined. Clinical symptoms included contractures associated to weakness, torticollis and scoliosis, mandibular prognathism. Core like disease (2), Congenital Dystrophy (3), Lipid storage myopathy (1), Nemaline myopathy (1) Mitochondrial myopathy (2), Fibral type disproportion (1) were diagnosed. As FD is a symptom, it should be endeavored to apply to each clinical case a complete diagnostic iter. A definite diagnosis would enable an early prognosis and could identify a potential genetic basis of transmission to offspring. Congenital myopathies were demonstrated in muscular biopsies collected from contracted foals. Both isolated and multiple contractures could be found in neuromuscular disorders, that probably cause reduced foetal movements, responsible for intrauterine malpositioning. Muscular biopsy was a valuable diagnostic mean in foals affected by FD.