Clinical and Neurophysiological Aspects of Congenital Myopathies: Optimization of Diagnosis

Congenital myopathies represent a heterogeneous group of hereditary disorders characterized by structural or functional abnormalities of muscle tissue. They typically manifest in early childhood with muscle weakness, hypotonia, and delayed motor development. The wide variability in clinical manifestations and disease progression complicates diagnosis and may lead to confusion with other neuromuscular pathologies.

Objective:

To determine the mechanisms of clinical symptom formation in congenital myopathies and to develop differential diagnostic criteria based on electromyoneurography (ENMG) and laboratory parameters — creatine phosphokinase (CPK) and lactate dehydrogenase (LDH).

A prospective study included 20 patients suspected of congenital myopathy and 10 age-matched controls. All participants underwent a comprehensive clinical and neurological examination with assessment of muscle strength, reflexes, and tone. ENMG parameters — motor unit potential (MUP) amplitude, duration, and polyphasicity — were recorded, and serum levels of CPK and LDH were measured. Data were analyzed using descriptive statistics, t-tests, and ROC analysis. Elevated CPK and LDH levels correlated with ENMG abnormalities. The study demonstrated that combining clinical observation, ENMG, and routine biochemical testing is effective for early detection and differential diagnosis of congenital myopathies from other neuromuscular diseases.