Objective: To study the relationship between various electrodiagnostic modalities in acute facial palsy. Setting: Academic tertiary care center. Patients: One-hundred and six patients who presented with traumatic or nontraumatic acute facial paralysis (House-Brackmann, HB, grade 6/6) between 2008 and 2017 and underwent acute electrodiagnostic testing. Intervention: Electroneurography (ENoG) using nasolabial fold (NLF) or nasalis muscle (NM) methods, and volitional electromyography (EMG) in all patients. Main outcome measures: Percent degeneration of ipsilateral facial nerve compound muscle action potentials (CMAP) on NLF-and NM-ENoG, presence or absence of muscle unit potentials (MUPs) on EMG. Results: Extent of facial nerve degeneration measured by NLF-and NM-ENoG were highly correlated (r = 0.85, P < .01) on each test and on serial testing. NLF-and NM-ENoG concordantly diagnosed ≥90% degeneration in 44 patients (80%), of whom 32 patients were diagnosed to have 100% degeneration by both methodologies. Absence of MUPs on EMG was 63% sensitive and 92% specific for ≥90% degeneration on ENoG, with a positive predictive value of 90%. For patients with Bell's palsy, percent degeneration on ENoG was also correlated to HB score at 1 year. Surgical decompression resulted in mean HB scores of 2.2 and 3.0 for patients with Bell's palsy and trauma, respectively. Conclusions: NM-ENoG may be a valid and comparable method to NLF-ENoG for predicting the recovery of facial nerve function in acute paralysis. Absence of MUPs on EMG is a specific measure of severe degeneration and highly predictive of candidacy for surgical decompression.
A postsynaptic dysfunction of the neuromuscular junction has been reported in patients with alpha-dystroglycanopathy associated with mutations in guanosine diphosphate (GDP)-mannose pyrophosphorylase B gene (GMPPB), some of whom benefit from symptomatic treatment. In this study, we determine the frequency of myasthenic and fatigue symptoms and neuromuscular junction transmission defects in a fukutinrelated protein (FKRP)-predominant alpha-dystroglycanopathy cohort. Thirty-one patients with alpha-dystroglycanopathies due to mutations in FKRP (n = 25), GMPPB (n = 4), POMGNT1 (n = 1), and POMT2 (n = 1) completed a six-question modified questionnaire for myasthenic symptoms and the PROMIS Short Form v1.0-Fatigue 8a survey, and they underwent 3 Hz repetitive nerve stimulation of spinal accessory nerve-trapezius and radial nerve-anconeus pairs. Results showed that fatigue with activity was common; 63% of the cohort reported fatigue with chewing. A defective postsynaptic neuromuscular junction transmission was not identified in any of the patients carrying FKRP mutations but only in one mildly affected patient with GMPPB mutations (c.79 G > C, p.D27H and c.402 + 1G > A, splice site variant). We conclude that symptoms of fatigue with activity did not predict abnormal neuromuscular junction transmission on electrodiagnostic studies in this cohort and that, unlike GMPPB subgroup, a defective neuromuscular junction transmission does not appear to be present in patients with FKRP-associated muscular dystrophies.
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