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Muscle atrophy is the loss of skeletal muscle mass. It can be caused by immobility, aging, malnutrition, medications, or a wide range of injuries or diseases that impact the musculoskeletal or nervous system. Muscle atrophy leads to muscle weakness and causes disability.
This magnified image of type 2 muscle fibers shows denervation atrophy occurring at the white spaces at the top left and bottom center of the image. The white space represents a disruption of the nerve fibers, resulting in a loss of nerve supply to the muscle fibers. Denervation is any loss of nerve supply regardless of the cause.
Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. [1]
This usually starts with the observation of bulk, possible atrophy or loss of muscle tone. Neuromuscular disease can also be diagnosed by various blood tests and using electrodiagnostic medicine tests [23] including electromyography [24] (measuring electrical activity in muscles) and nerve conduction studies. [25]
LMNL is indicated by abnormal EMG potentials, fasciculations, paralysis, weakening of muscles, and neurogenic atrophy of skeletal muscle. Bell's palsy, bulbar palsy, poliomyelitis and amyotrophic lateral sclerosis (ALS) are all pathologies associated with lower motor neuron dysfunction. [6] [7]
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and muscle atrophy, preceded by severe pain. [1] In about half of the cases it is associated with a mutation of the SEPT9 gene (17q25). While not much is known about this disorder, it has been characterized to be similar to Parsonage-Turner ...