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It was first identified in 1966 at the Mayo Clinic, by A.G. Engel, [2] and that same year W.K. Engel and J.S. Resnick noted another case that they elaborated in 1975. [ 3 ] [ 4 ] The diagnosis of the disease rests on subacutely evolving weakness after age 40, normal to low CK level , a myopathic EMG with fibrillations , and often a monoclonal ...
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.
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.
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...
Weakness (motor deficits) occurs in generalized fashion, rather than beginning in one region of the body and spreading. Limb and respiratory (diaphragm) muscles are especially affected. The muscles of the face are usually spared, but in rare cases, the eye muscles may be weakened, leading to ophthalmoplegia .
Respiratory muscle weakness: Neuromuscular disorders may lead to respiratory muscle weakness, such as spinal cord injury, neuromuscular diseases, and neuromuscular blocking drugs. Respiratory muscle fatigue can also lead to respiratory muscle weakness if patients breathe over 70% of their maximum voluntary ventilation.
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 ...
Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018. [1] [2] They are named by the following system: LGMD, recessive or dominant inheritance (R or D), order of discovery (number), affected protein. [1] LGMD D1 DNAJB6-related; LGMD D2 TNP03-related; LGMD D3 HNRNPDL-related; LGMD D4 calpain3-related