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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]
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 ...
Patients with hereditary motor and sensory neuropathies are diagnosed through a physical evaluation that looks for muscle atrophy, weakness, and sensory responses. [3] In addition to this, electromyography and motor nerve conduction tests can help clinicians decide what type of motor and sensory neuropathy it is and how severe the disease is.
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.
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 ]
This is performed by testing for proximal and distal muscle strength, as well as testing for any signs of neurogenic symptoms such as impaired sensation, deep tendon reflexes, and atrophy. [ 1 ] If needed, more advanced equipment can be used to help determine whether a patient has ANIM.
Disuse atrophy of the muscle occurs i.e., shrinkage of muscle fibre finally replaced by fibrous tissue (fibrous muscle) Other causes include Guillain–Barré syndrome, West Nile fever, C. botulism, polio, and cauda equina syndrome; another common cause of lower motor neuron degeneration is amyotrophic lateral sclerosis.
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]