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[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 gammopathy. The diagnosis is confirmed by visualizing rods in cryosections on light and electron microscopy. The associated monoclonal gammopathy has an unfavorable prognosis.
The main symptom of benign fasciculation syndrome is focal or widespread involuntary muscle activity (fasciculation). [1] The benign twitches usually have a constant location. [2] Other common symptoms are generalized fatigue or weakness, paraesthesia or numbness, and muscle cramping or spasms. [1]
Weakness of the eye muscles is uncommon. Some may have double vision, drooping of the eyelids and difficulty swallowing, [4] but generally only together with leg weakness; this too distinguishes LEMS from myasthenia gravis, in which eye signs are much more common. [3] In the advanced stages of the disease, weakness of the respiratory muscles ...
Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. [3] [4] Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is normal ...
Electromyography (EMG) can be used in diagnosis to rule out myotonia, or muscle stiffness that is detected by EMG. Individuals with BD have stiff muscles but normal EMG results (pseudo-myotonia), where no myotonic discharges are detected. [5] [2] Genetic testing may also be used in the diagnosis of BD to look for mutations in ATP2A1. [11]
The muscle weakness that worsens with activity (abnormal muscle fatigue) in myasthenia gravis [66] is a symptom shared by other neuromuscular diseases. Most of the metabolic myopathies, such as McArdle disease (GSD-V), have abnormal muscle fatigue rather than fixed muscle weakness.
Brody disease (also known as Brody myopathy) includes symptoms similar to myotonia congenita, including muscle stiffness and cramping after initiating exercise (delayed muscle relaxation). However, it is pseudo- myotonia as those with Brody disease have normal EMG .
Muscle weakness can also be classified as either "proximal" or "distal" based on the location of the muscles that it affects. Proximal muscle weakness affects muscles closest to the body's midline, while distal muscle weakness affects muscles further out on the limbs. Proximal muscle weakness can be seen in Cushing's syndrome [18] and ...