Inclusion body myositis is a rare condition of idiopathic inflammatory myopathy. Prior criteria for the diagnosis of inclusion body myositis essentially required pathological features of rimmed vacuoles, tubulofilamentous inclusions, and amyloid deposits. However, recently developed new diagnostic criteria emphasize clinical characteristics including weakness of finger flexors and knee extensors. In addition, a serological evaluation of anti-cN1A antibody is helpful for the diagnosis. We report a case of inclusion body myositis with clinical, pathological, and serological consideration.

Muscle and nerve biopsy may be vital diagnostic tools in various neuromuscular disorders. Since these procedures are invasive, it matters to decide when to perform a biopsy, which muscle or nerve to be selected, and how to interpret the pathologies. This review addresses the indications, methods of biopsies, and also significant pathological findings frequently encountered in muscle and nerve pathology.

New therapeutics in neurology are expanding at an unprecedented pace. In addition to the classic enzyme-replacement therapies, monoclonal antibodies are increasingly being used to modulate autoimmunity. RNA therapeutics are an emerging class, together with gene and cell therapies. The nomenclature of international nonproprietary names helps us to recognize these new drugs according to their class and function. Suffixes denote major categories of the drug, while infixes provide additional information such as the source and target. Key Words: Systematized nomenclature of medicine · Biological therapy · Genetic therapy.

Background: Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy have remarkable effects on the prognosis of Pompe disease. We performed the expanded screening for late onset Pompe disease (LOPD) at eight centers in Korea.Methods: From September 1, 2015, GAA activity were measured from both dried blood spot (DBS) and mixed leukocyte for 188 available patients. For 12 patients with low GAA activity, we performed Sanger sequencing of GAA gene.Results: Among 188 patients, 115 were males. The mean of age of symptom onset and diagnosis were 34.3 years and 41.6 years. Among 12 patients with decreased GAA activity, two patients were confirmed to have LOPD with genetic test (c.1316T>A [p.M439K] + c.2015G>A [p.R672Q], c.1857C>G [p.S619R] + c.546G>C [leaky splicing]). Other two patients had homozygous G576S and E689K mutation, known as pseudodeficiency allele.Conclusions: This study is expanded study of LOPD screening for targeted Korean population. We found two patients with LOPD, and the detection rate of LOPD is 1.06%. With application of modified GAA cutoff value (0.4), which was previously reported, there were no false positive results of GAA activity test using DBS. Therefore, it could be an appropriate screening test for LOPD in especially East-Asian population, in which pseudodeficiency allele is frequent.

Received March 16, 2020 Revised April 21, 2020 Accepted April 21, 2020 Address for correspondence: Young-Eun Park, MD, PhD Department of Neurology, Pusan National University Hospital, 179 Gudeok-ro, Seo-gu, Busan 49241, Korea Tel: +82-51-240-7819 Fax: +82-51-245-2783 E-mail: yepark407@gmail.com Valosin-containing protein (VCP)은 ubiquitin-proteasome system을 통한 단백질 분해과정과 자가포식현상(autophagy)에 참여 하는 단백질이다. 이를 암호화하는 VCP유전자는 봉입소체근육병 (inclusion body myopathy, IBM), 패짓병(Paget disease of bone, PDB), 전두측두엽치매(frontotemporal dementia, FTD)로 구성된 질환인 IBMPFD의 원인유전자로 알려져 있다. IBMPFD에서 세 가지 질환은 다양한 빈도로 나타나는데, 패짓병(43%)과 전두측두 엽치매(30%)에 비해 봉입소체근육병의 발현율(90%)이 가장 높 다. VCP관련봉입소체근육병은 사지대쇠약(limb-girdle weakness)을 보이는 경우가 가장 많지만, 드물게 먼쪽근육과 축근육의 쇠약을 보이며 어깨종아리쇠약(scapuloperoneal weakness)이 보고 되기도 했다. VCP 돌연변이는 이외에도 근위축측삭경화증, 유전 강직하반신마비, 샤르코-마리-투스병과 같은 다양한 질환과 연관 되므로 이들을 VCP관련 다계통단백질병(multisystem proteinopathy)으로 부르기도 한다. 축근육(axial muscle)의 쇠약은 일부 염증근육병과 다양한 유전근 육병에서 관찰할 수 있다. 주로 척추옆근의 위축으로 인해 나타나며 심하면 머리처짐증후군(dropped head syndrome)이나 몸통굽힘증 (camptocormia)을 보이기도 한다. 사지의 근쇠약이 함께 나타나는 경우가 많지만 축근육의 쇠약만 나타나는 경우도 있다. 얼굴어깨위 팔근디스트로피(facioscapulohumeral muscular dystrophy)에서 특 히 축근육의 쇠약으로 발현하는 경우가 많다.

Neuromuscular ultrasonography has emerged over the last decade as a useful tool for diagnosing peripheral nerve disorders. It has been studied extensively with a particular focus on the assessment of compression neuropathies. Neuromuscular ultrasonography complements electrodiagnostic studies well by visualizing both the nerve anatomy and surrounding structures, providing useful data that cannot be obtained using the latter methodology only. This review article summarizes and synthesizes the literature focusing on the diagnostic role of neuromuscular ultrasonography in common compression neuropathies of the upper limb. Key Words: Nerve compression syndromes · Ultrasonography · Upper extremity.

Hereditary myopathy with early respiratory failure (HMERF) is characterized by early respiratory insufficiency which is inappropriate to the degree of limb muscle weakness. Recently, mutation in TTN gene was found in HMERF patients with the aid of gene sequencing. We describe the first case presenting with distal leg weakness and early respiratory failure confirmed by TTN gene mutation in Korea.

결절다발동맥염(polyarteritis nodosa, PAN)은 소형, 중형 동맥 을 침범하여 전층염증(transmural inflammation)을 야기하는 질환 이다. 일반적인 PAN은 신장, 간, 심장 등의 여러 장기를 침범하는 전신질환이지만, 증상이 피부에만 국한되는 피부결절다발동맥염 (cutaneous PAN, CPAN)을 하나의 질병 단위로 구별하여 인정하 고 있다. 이 경우 주된 장기의 침범은 없지만 발열, 권태(malaise), 근육통, 관절통과 같은 전신증상을 호소할 수 있다. 피부결절다발 동맥염의 가장 흔한 피부증상은 피하결절이며, 대개 하지, 특히 무 릎 아래에서 관찰되고 심한 경우 피부궤양을 동반한다. 그물울혈 반(livedo reticularis)도 흔히 관찰되며 자반(purpura), 출혈점 (petechia), 괴사와 물집이 나타날 수도 있다. 피부조직검사에서는

We report a 26 year-old female who initially presented with hypersomnia and visual disturbance with preceding upper respiratory infection. She was diagnosed as neuromyelitis optica spectrum disorder (NMOSD) with the presence of anti-AQP4 antibody. Eight months later, she experienced nausea and vomiting refractory to conventional therapies, which was proved correlated with a lesion of area postrema on brain magnetic resonance imaging. These might be significant clinical manifestations in NMOSD and may widen the clinical spectrum of the disease. Key Words: Neuromyelitis optica spectrum disorder, Hypersomnia, Vomiting

Cap myopathy is pathologically characterized by cap structures comprising well-demarcated areas under the sarcolemma and containing deranged myofibrils and scattered Z-disks. Clinically it presents with slowly progressive muscle weakness, myopathic face, and frequent respiratory insufficiency. Four genes have been reported to be associated with the disease: TPM2, TPM3, ACTA1, and NEB. Here we describe that a patient presenting with mild limb weakness with facial affection showed cap structures on muscle pathology and carried a heterozygous TPM3 mutation. Key Words: Cap myopathy, Tropomyosin, TPM3

The present study aimed to investigate the vitamin D status in patients with early inflammatory arthritis (EIA). We conducted a retrospective study among patients who presented with EIA at the outpatient rheumatology clinic of a tertiary referral center between March 2012 and February 2013. In total, 101 subjects with EIA (≥1 swollen joint and symptom duration of ≤6 months, not explained by another disease) and 101 healthy controls matched for age, sex, and the month of serum vitamin D measurements were enrolled. Serum 25-hydroxy vitamin D (25-OHD) concentrations were assessed by radioimmunoassay. Vitamin D “deficiency” and “severe deficiency” were defined as serum 25-OHD levels <20 and <10 ng/mL, respectively. Among EIA patients, rheumatoid arthritis (RA) was classified according to the 2010 American College of Rheumatology/European League against Rheumatism criteria. Vitamin D deficiency was highly prevalent among EIA patients, but no significant differences in the frequency of vitamin D deficiency of EIA patients and controls were observed (75.2 vs 65.3 %, p = 0.106). Additionally, in spring and summer, EIA patients had significantly lower serum 25-OHD concentrations than controls, but the opposite trend was observed in autumn. Among 101 EIA patients, 38 (37.1 %) were classified as having RA. Severe vitamin D deficiency in EIA patients was significantly associated with the higher likelihood of being classified as having RA. In conclusion, the frequency of vitamin D deficiency in EIA patients was comparable to that in controls, but severe vitamin D deficiency was associated with the presence of RA among EIA patients.

a , Young-Eun Park, MD a,b , Hye-Kyoung Shin, MD a , Kee-Yong Cho, MD a , The presence of antiganglioside antibodies is closely associated with the clinical characteristics of Guillain-Barre syndrome (GBS), as evidenced by the presence of anti-GQ1b antibody in Miller-Fisher syndrome and anti-GT1a antibody in a pharyngeal-cervical-brachial variant of GBS. We report herein three patients harboring both anti-GT1a and anti-GQ1b antibodies who all exhibited oculopharyngeal palsy and additional features of ataxia, facial palsy, internal ophthalmoplegia, and visual disturbance. The findings of this study suggest that oculopharyngeal palsy is a common clinical manifestation determined by the coexistence of anti-GQ1b and GT1a antibodies. J Korean Neurol Assoc 32(4):275-278, 2014

Background and Purpose Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common causes of autosomal dominant or sporadic CNM. The aim of this study was to characterize the clinical and pathological features of CNM relative to the presence of DNM2 mutations. Methods Six patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. Results We detected DNM2 mutations in four of the six sporadic CNM patients, and identified the following distinct clinical and pathological features in those patients with DNM2 mutations: preferential involvement of the distal lower limbs, typical nuclear centralization, and radially distributed sarcoplasmic strands in muscle pathology. In contrast, those without DNM2 mutations exhibited rather diffuse muscular involvement, and nuclear internalization and myofibrillar disorganization were more pronounced features of their muscle pathology. Conclusions These findings suggest the presence of specific features in Korean CNM patients. A detailed clinical and pathological examination of CNM patients would be helpful for molecular genetic analyses of this condition.

Background/Aims To compare the frequency of metabolic syndrome (MetS) and magnitude of insulin resistance, measured by the homeostatic model assessment of insulin resistance (HOMA-IR), between South Korean women with rheumatoid arthritis (RA) and healthy subjects, and to evaluate risk factors for MetS and increased HOMA-IR in patients with RA. Methods In a cross-sectional setting, 84 female patients with RA and 109 age-matched healthy female subjects were consecutively recruited at a university-affiliated rheumatology center in South Korea. MetS was defined according to the Third Report of the National Cholesterol Education Program's Adult Treatment Panel (NCEP-ATP III) 2004 criteria. Results The frequency of MetS did not differ significantly between patients with RA (19%) and healthy subjects (15.6%, p = 0.566), although patients with RA had a higher HOMA-IR compared with healthy subjects (p < 0.001). Patients with RA met the NCEP-ATP III 2004 criteria for high blood pressure more often than healthy subjects (44% vs. 19.3%, p < 0.001), and low high density lipoprotein cholesterol was more prevalent in healthy subjects (33%) than in patients with RA (14.3%, p = 0.004). Although no obvious risk factors for the presence of MetS were identified in patients with RA, higher serum C-reactive protein and disease activity score assessed using the 28-joint count for swelling and tenderness-erythrocyte sedimentation rate significantly contributed to a higher HOMA-IR. Conclusions Despite their increased insulin resistance, South Korean women with RA did not have a significantly higher frequency of MetS compared with that in healthy subjects.