Search

Introduction: We aimed to clarify when adult patients with Charcot-Marie-Tooth disease type 1A (CMT1A), especially those diagnosed at middle or advanced ages, first showed symptoms and whether the rate of disease progression is accelerated by aging. Methods: Medical records of CMT1A outpatients between 2012 and 2019 were reviewed. The age at diagnosis, age when symptoms first appeared, and rate of disease progression, assessed based on clinical outcome measures including the CMT Neuropathy Score (CMTNS), Rasch-modified CMTNS (CMTNS-R), CMT Examination Score (CMTES), and Rasch-modified CMTES (CMTES-R) were analyzed. Results: Among 45 adult CMT1A patients, 42% had been diagnosed after 50 years of age, whereas 91% of all patients had exhibited some CMT-related symptoms before 20 years of age. The annual increase of all clinical outcome measures did not differ between patients under and over 50 years. Even when limited to patients whose initial CMTES-R showed mild to moderate severity, the rate of change in CMTES-R did not differ between the two age groups (the annual mean ± standard deviation, under 50 years: 1.1 ± 1.0, and over 50 years: 0.9 ± 1.1, p = 0.68). To determine whether patients with disabilities at a young age have a higher deterioration rate, they were classified into three groups according to their current age and age at diagnosis: patients under 50 years of age, patients over 50 years of age but diagnosed before 50, and patients diagnosed after 50 years of age. The mean annual increase of all clinical outcome measures, however, did not differ among these groups (CMTES-R: 1.03 ± 1.01 vs. 0.94 ± 1.57 vs. 0.81 ± 0.88, respectively, p = 0.87). Discussion: CMT1A patients develop symptoms in childhood and adolescence even if such symptoms are not noticeable until reaching an advanced age. Deterioration rates of clinical outcome measures are constant irrespective of the age in their adulthood, although we cannot rule out the limitation that the difference did not reach significance because of the small number of patients. Being aware of the existence of a considerable number of undiagnosed CMT patients will help promote the avoidance of inadequate medication., (Copyright © 2020 Kitani-Morii, Noto, Tsuji, Shiga, Mizuta, Nakagawa and Mizuno.)

Background: The accumulation of multiple-protein aggregates within muscle fibers is a pathological hallmark of sporadic inclusion body myositis (s-IBM) with the presence of inclusion bodies. Amyloid-beta is one of the accumulated proteins in s-IBM. The aim of this study was to elucidate the utility of Pittsburgh compound B-positron emission tomography (PIB-PET) for diagnosing s-IBM. Methods: Nine patients with s-IBM and four patients with idiopathic inflammatory myopathy (IIM) were included. Patients underwent PIB-PET of body muscles. Standardized uptake values (SUVs) were measured in 16 muscles. A comparison of SUVs was made between s-IBM and IIM groups. The correlation between PIB-PET and clinical parameters was analyzed. Results: The mean SUV of all muscles in s-IBM patients was higher than in IIM patients (0.32 vs. 0.25, respectively; p = 0.031). Subgroup analysis identified a clear difference in SUVs of the forearm and lower-leg muscle groups ( p = 0.021 and p = 0.045, respectively). There was no correlation between SUVs and clinical parameters in s-IBM patients. Conclusions: Muscle PIB-PET may help to make a diagnosis of s-IBM., (Copyright © 2020 Noto, Kondo, Tsuji, Matsushima, Mizuno, Tokuda and Nakagawa.)