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A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), [a] the neuromuscular junctions, or skeletal muscles, all of which are components of the motor unit. [4] Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or ...
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.
Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. The severity of these symptoms varies and can change throughout one's life to some extent.
Corticosteroids often cause muscle weakness to some degree in patients. Symptoms are usually weakness of the proximal muscles, neck flexor, and in extreme cases, respiratory muscle weakness can also occur. [1] Corticosteroids have not only been found to cause some degree of muscle atrophy, but also a local or diffuse cell death. These side ...
With critical illness myopathy, no other cause of the muscle degeneration can be found. [citation needed] Unlike Guillain–Barre syndrome, another neurological disorder that causes weakness, patients with critical illness polyneuropathy do not have loss of the myelin sheath that normally surrounds neurons (demyelination). [11]
Congenital syndromes affecting the neuromuscular junction are considered a very rare form of disease, occurring in 1 out of 200,000 in the United Kingdom.(reference 29) These are genetically inherited disorders. Symptoms are seen early since the affected individuals carry the mutation from birth.
The diagnosis is usually confirmed with electromyography and blood tests; these also distinguish it from myasthenia gravis, a related autoimmune neuromuscular disease. [4] If the disease is associated with cancer, direct treatment of the cancer often relieves the symptoms of LEMS.
An initial diagnosis of PMA could turn out to be slowly progressive ALS many years later, sometimes even decades after the initial diagnosis. The occurrence of upper motor neuron symptoms such as brisk reflexes, spasticity, or a Babinski sign would indicate a progression to ALS; the correct diagnosis is also occasionally made on autopsy. [4] [5]