overview of neuromuscular disease

neuromuscular disorders encompass a broad spectrum of disorders from the anterior horn cell to the muscle tissue itself. the given condition can be either genetic or acquired. these group of disorders are diagnostically challenging as many of them also pose other systemic findings. one example would the commonly seen mental retardation in duchenne muscular dystrophy. from the practical point of view, the anterior horn cell has got two separate disorders. spinal muscular atrophy is the genetically determined condition of the anterior horn cell, whereas poliomyelitis is acquired. the genetic disorders of the peripheral nerve are named as hereditary sensory motor neuropaties, which could be seen with mendelian and mitochondrial dna inheritance. these are either axonal or demyelinating. the acquired demyelinating neuropathy is autoimmune based. if the latter condition is axonal, then toxic causes should be investigated. myastenias overall encompass about 2% of neuromuscular disorders in childhood with majority being the congenital forms. anatomically, congenital myasthenic syndromes are classified according to the site of the abnormality being pre-synaptic, synaptic or post-synaptic. slow channel syndrome is seen less frequently than the other forms. the disorders of the primary muscle tissue can be divided into muscular dystophies, congenital myopathies, metabolic conditions and acquired diseases. juvenile dermatomyositis, iatrogenic myopathies and endocrine myopathies are typically acquired , where as the remaining are hereditary. a detailed family history is mandatory. physical stigmata such as localized atrophy or hypertrophy must be noted along with the functional evaluation. serum creatine kinase level may denote the extent of muscle damage. electrophysiological tests are necessary particularly if the condition resembles to a neuromuscular junction condition or to a peripheral neuropathy. muscle imaging, especially muscle ultrasound is exceptionally helpful. muscle biopsy and further biochemical tests (such as in suspect mitochondrial disorders) in most instances is the last resort with very high accuracy. treatment aspects of these disorders are also multifold: biological (genes, proteins), medical (drugs), social (society) and personal (quality of life).