Flexural Deformities (FD) or “contractures” are a common disease in foals. Therapy to correct the defects is normally 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 and a neuromuscular etiology has been supposed.
Aims of the study were to describe a case series of congenital FD, to examine 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. Muscle biopsies were collected. Administrated therapy was described.
Fourteen foals were examined. Clinical symptoms included contractures associated to weakness, torticollis and scoliosis, mandibular prognathism, inferior eyelid entropion. Core like disease (2), Mild unspecific myopathy (5), Mitochondrial myopathy (2), Congenital Fiber Type Disproportion (2), Lipid storage myopathy (1), Lipomatous muscle “dystrophy” (1) Myopathy with inclusion bodies (1), Vacuolar myopathy (1), Neurogenic myopathy (1) were diagnosed. Multiple myopathic lesions were shown in some biopsies.
As FD are 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 muscle biopsies collected from contracted foals. Both isolated and multiple contractures could be found in neuromuscular disorders, that probably produce reduced foetal movements responsible for intrauterine malpositioning.
Muscle biopsy was a valuable diagnostic mean in foals affected by FD
