ABSTRACT
[This corrects the article on p. 330 in vol. 55, PMID: 30622389.].
ABSTRACT
Congenital myasthenic syndromes (CMS) are a group of hereditary disorders affecting the neuromuscular junction. Here, we present clinical, electrophysiological and genetic findings of 69 patients from 51 unrelated kinships from Turkey. Genetic tests of 60 patients were performed at Mayo Clinic. Median follow-up time was 9.8 years (range 1-22 years). The most common CMS was primary acetylcholine receptor (AChR) deficiency (31/51) and the most common mutations in AChR were c.1219 + 2T > G (12/51) and c.1327delG (6/51) in CHRNE. Four of our 5 kinships with AChE deficiency carried p.W148X that truncates the collagen domain of COLQ, and was previously reported only in patients from Turkey. These were followed by GFPT1 deficiency (4/51), DOK7 deficiency (3/51), slow channel CMS (3/51), fast channel CMS (3/51), choline acetyltransferase deficiency (1/51) and a CMS associated with desmin deficiency (1/51). Distribution of muscle weakness was sometimes useful in giving a clue to the CMS subtype. Presence of repetitive compound muscle action potentials pointed to AChE deficiency or slow channel CMS. Our experience confirms that one needs to be cautious using pyridostigmine, since it can worsen some types of CMS. Ephedrine/salbutamol were very effective in AChE and DOK7 deficiencies and were useful as adjuncts in other types of CMS. Long follow-up gave us a chance to assess progression of the disease, and to witness 12 mainly uneventful pregnancies in 8 patients. In this study, we describe some new phenotypes and detail the clinical features of the well-known CMS.
Subject(s)
Muscle Proteins/genetics , Myasthenic Syndromes, Congenital/genetics , Neuromuscular Junction/metabolism , Acetylcholinesterase/genetics , Adolescent , Collagen/metabolism , Female , Follow-Up Studies , Humans , Male , Mutation/genetics , Phenotype , Prognosis , Receptors, Cholinergic/genetics , Retrospective Studies , Young AdultABSTRACT
Introduction: Migraine and temporomandibular disorders (TMD) are both common diseases and TMD are reported as a risk factor in migraine progression. OnabotulinumtoxinA is used in the treatment of chronic migraine (CM), and also has a potential role in TMD treatment. In this study, it is aimed to compare the efficacy of onabotulinumtoxinA treatment in CM patients with and without TMD. Methods: In this retrospective study, 30 CM patients (age range: 18-65 years), satisfying the inclusion and follow-up criteria in their medical records were investigated. The PREEMPT injection protocol was taken as reference and onabotulinumtoxinA 155-195 U with fixed-dose has been administered into 31 specific sites within the head/neck muscles in included subjects. Two cycles of treatment were assessed in all patients at the baseline and 12 weeks later. The headache diaries, which were completed routinely one month before, and during 6 months follow-up after the treatment, were assessed. The effect of onabotulinumtoxinA treatment was compared between CM patients with and without TMD/bruxism. Results: Of 30 female patients, 17 had concomitant TMD. In week 24, there were significant improvement in the groups with and without TMD regarding to the mean change of frequencies in the days with migraine compared to the initial findings (p<0.001). However, there was no significant difference between the two groups. Conclusions: OnabotulinumtoxinA is an effective and safe treatment for CM. Its efficacy appears to be similar in CM patients with and without TM, speculating that the comorbidity of TMD did not play a role for the treatment response.