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This leads to difficulties climbing stairs and rising from a sitting position. Weakness is often relieved temporarily after exertion or physical exercise. High temperatures can worsen the symptoms. Weakness of the bulbar muscles (muscles of the mouth and throat) is occasionally encountered. [4] Weakness of the eye muscles is uncommon.
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.
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.
Various patterns of muscle weakness occur in different motor neuron diseases. [6] Weakness can be symmetric or asymmetric, and it can occur in body parts that are distal, proximal, or both. According to Statland et al., there are three main weakness patterns that are seen in motor neuron diseases, which are: [6] [9]
It allows efferent signals from the nervous system to contract muscle fibers causing them to contract. In vertebrates, the neuromuscular junction is always excitatory, therefore to stop contraction of the muscle, inhibition must occur at the level of the efferent motor neuron. In other words, the inhibition must occur at the level of the spinal ...
Proximal muscle weakness, exercise intolerance, lactic acidosis, high serum lactate/pyruvate ratio, normal to elevated serum CK, dyspnea, exaggerated cardiorespiratory response to exercise are common symptoms. It may be isolated to the muscle (pure myopathy) or may be systemic including not only myopathy, but also eye abnormalities, peripheral ...
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 ...
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]