52PClinical and radiological profile of a cohort of anti-HMGCR myopathy

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-09-01 DOI:10.1016/j.nmd.2025.105515

S. Vengalil, S. Ahmed, S. Nashi, D. Menon, A. Mahadevan, A. Nalini

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Abstract

Anti-HMGCR myopathy is an immune-mediated necrotizing myopathy. We undertook this study to know the clinical and radiological features of a cohort of anti-HMGCR myopathy. Retrospective study of 10 patients of anti-HMGCR myopathy, seen in NIMHANS, India, from March 2023-March 2025. Details of clinical features and lab investigations were collected. MRI muscle was done using 3T Aera MRI (axial T1, T2, and T2-weighted fat-saturated images). Edema was scored in STIR using Modified Stramare scoring and fatty infiltration in T1 using Mercuri scoring. 10 patients. Mean age at evaluation-34.8+20.7 years. Male:female 8:2. Mean duration of illness was 20.8+36.2 months. (8 patients onset within a year). Initial clinical feature was proximal lower limb (LL) weakness in 9, upper limb in 1. History of statin exposure noted in one. Neck flexor weakness (7), facial weakness (5), exertional myalgia (3), bulbar involvement (3), distal LL weakness (3) and respiratory muscle weakness (1) were the other features. One patient was wheelchair bound. None had cardiac involvement. Mean Creatine Kinase (CK) was 10499+3787 IU/L. Biopsy (n=6) showed necrosis in 5, myophagocytosis in 2, perifascicular atrophy 2, sparse endomysial inflammatory infiltrate in 1. CT chest (n=8) - no Interstitial lung disease. MRI muscle showed that Hip/Gluteus region had highest fatty infiltration (mean score 0.85), followed by Thigh Posterior (0.73) and Obturator (0.73). The Leg region had the lowest level (0.41). 60% of all muscles had normal muscle tissue (Score 0), while 30% had mild fatty infiltration (Score 1). Severe (score 3) and complete fatty replacement (Score 4) were less common. Posterior leg muscles had mean edema score of 2.33 while the obturator group had the least score of 1.25. 70% of muscles in each group had scores of 2 and 3. Anti-HMGCR Myopathy may have subacute onset, high CK. Cardiac and respiratory involvement are rare. MRI muscle showed distinct patterns.

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抗hmgcr肌病队列的临床和放射学概况

抗hmgcr肌病是一种免疫介导的坏死性肌病。我们进行这项研究是为了了解抗hmgcr肌病队列的临床和影像学特征。回顾性研究2023年3月至2025年3月在印度NIMHANS发现的10例抗hmgcr肌病患者。详细的临床特征和实验室调查收集。采用3T Aera MRI（轴向T1， T2和T2加权脂肪饱和图像）进行肌肉MRI。STIR用Modified Stramare评分法对水肿进行评分，T1用Mercuri评分法对脂肪浸润进行评分。10个病人。评估时平均年龄-34.8+20.7岁。男:女性的宣告。平均病程20.8+36.2个月。（1年内发病8例）。最初临床表现为下肢近端无力9例，上肢无力1例。有他汀类药物暴露史。颈部屈肌无力(7)，面部无力(5)，运动性肌痛(3)，球受累(3)，远端LL肌无力(3)和呼吸肌无力(1)是其他特征。一个病人被轮椅束缚着。没有心脏受累。平均肌酸激酶（CK）为10499+3787 IU/L。活检（n=6）显示坏死5例，肌吞噬2例，筋膜周围萎缩2例，肌内膜稀疏炎性浸润1例。胸部CT (n=8) -无间质性肺疾病。肌肉MRI显示，臀部/臀区脂肪浸润最高（平均评分0.85），其次是大腿后区（0.73）和闭孔区（0.73）。Leg区最低（0.41）。60%的肌肉组织正常（评分0），30%有轻度脂肪浸润（评分1）。重度（评分3分）和完全脂肪替代（评分4分）较少见。小腿后肌平均水肿评分为2.33分，闭孔组最低，为1.25分。每组中70%的肌肉得分为2分和3分。抗hmgcr肌病可能有亚急性发作，高CK。很少累及心脏和呼吸系统。MRI肌肉显示明显的模式。

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.