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Muscle stiffness may also be present; if muscle weakness is not also present, and cramps are more severe, the stiffness may be categorized instead as cramp fasciculation syndrome. [3] Cramp fasciculation is a variant of BFS which presents with muscle pain and exercise intolerance. [2] [4]
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 ...
The myopathic EMG demonstrates fibrillation potentials. The serum CK level will be normal or low normal. The muscle biopsy will demonstrate the nemaline rods, but as they are less than 1 μm in length they are easily overlooked. The sections must be trichromatically stained and sectioned at a thickness of 2 to 4 μm for effective visualization.
Cramp fasciculation syndrome (CFS) is a rare [1] peripheral nerve hyperexcitability disorder. It is more severe than the related (and common) disorder known as benign fasciculation syndrome; it causes fasciculations, cramps, pain, fatigue, and muscle stiffness similar to those seen in neuromyotonia (another related condition). [2]
The mechanism currently known that operates via the synaptic cleft causing impairment of normal functioning is another congenital myasthenia gravis.(reference 7) This mechanism is the only currently known disease that acts on the synapse.(reference 12) It acts by impairing the function of the enzyme that breaks down acetylcholine causing it to ...
EMG may be normal, neuropathic, myopathic, or mixed type. Serum CK may be normal or raised. The sign of myoedema (raised muscle tissue in response to percussive tactile stimulus) may be observed.
Multifocal motor neuropathy (MMN) is a progressively worsening condition where muscles in the extremities gradually weaken.The disorder, a pure motor neuropathy syndrome, is sometimes mistaken for amyotrophic lateral sclerosis (ALS) because of the similarity in the clinical picture, especially if muscle fasciculations are present.
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. [5] Other diseases that exhibit pseudo-myotonia are myositis , glycogen storage diseases , hyperkalemic periodic paralysis , root disease, anterior horn cell disorders ...