Diagnosis
Diagnosis is clinical and initially consists of ruling out more common conditions, disorders, and diseases, and usually begins at the general practitioner level (your primary doctor). You doctor may conduct a basic neurological exam, including coordination, strength, reflexes, sensation, etc. Your doctor may also run a series of tests that include blood work and MRIs.
From there, you are likely to be referred to a neurologist or a neuromuscular specialist. The neurologist or a neuromuscular specialist may run a series of more specialized tests, including EMG/NCS (this is one of the most important tests), chest CT (to rule out paraneoplastic) and specific blood work looking for voltage-gated potassium channel antibodies, acethlocholine receptor antibody, and serum immunofixation, TSH, ANA ESR, EEG etc. Neuromyotonia is characterized electromyographically by doublet, triplet or multiplet single unit discharges that have a high, irregular intraburst frequency. Fibrillation potentials and fasciculations are often also present with electromyography.
Because the condition is so rare, it can often be years before a correct diagnosis is made.
NMT is not fatal and can be controlled. However, because NMT mimics some symptoms of motor neuron disease (ALS) and other more severe diseases, which may be fatal, there can often be significant anxiety until a diagnosis is made. In some rare cases, acquired neuromyotonia has been misdiagnosed as amyotrophic lateral sclerosis (ALS) particularly if fasciculations may be evident in the absence of other clinical features of ALS. However, fasciculations are rarely the first sign of ALS as the hallmark sign is weakness. In order to get an accurate diagnosis see a trained neuromuscular specialist.
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