National consensus on diagnosis, treatment and prevention of hereditary neuromuscular disorders

2020

Abstract

Introduction: Hereditary neuromuscular diseases are rare, progressive and debilitating diseases with involvement of peripheral nerves and muscles. They are due to genetic defects (mutations) in genes, which encode the muscle proteins or enzymes, involved in energy metabolism, as well as inflammatory and autoimmune processes. They persist with progressive weakness and atrophy of the muscles of the limbs, in some cases also of the paravertebral and respiratory muscles, rarely with hypertrophy. They are divided into muscular diseases (congenital muscular dystrophies and myopathies, progressive muscular dystrophies, myotonia, metabolic); neuropathies (hereditary); anterior horn diseases (spinal muscular atrophies); diseases with impaired neuromuscular transmission.
They are diagnosed based on a precise anamnesis of the onset of the disease, the localization of the weakness, the presence of other people with the disease in the family; clinical characteristic; neurological examination of loose paresis syndrome of different localization and degree of expression, hypotrophy, with or without fibrillation;
EMG assay for the detection of myogenic, neurogenic, anterior horn or impaired neuromuscular transmission; biochemical investigations for the detection of elevated creatine kinase ASAT, ALAT, other enzyme deficiency; genealogical and molecular genetic studies to determine the genetic defect of the disease. The diagnostic process distinguishes muscular disease (congenital myopathy, muscular dystrophy, myotonic dystrophy, myopathy of exchange, inflammatory myopathy), neuropathy (hereditary), anterior horn damage (different types of spinal muscular atrophy).
Inherited neuromuscular diseases should be distinguished from acquired diseases - inflammatory and infectious myopathies, inflammatory, toxic and other polyneuropathies, acute or chronic diseases of peripheral motor neuron and autoimmune myasthenia.