Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

Abstract Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients with Laing distal myopathy. Results Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle dorsiflexion and finger extension weakness, as well as neck flexion weakness were common in our patients. Myopathic as well as neurogenic lesions were suggested by electromyography in different patients. Respiratory abnormality of sleep apnea was detected in two of our patients stressing the necessity of close respiratory monitoring in this disease. Muscle MRIs showed similar features of concentric fatty infiltration of anterior thigh muscles together with early involvement of tibialis anterior and extensor hallucis longus. However, muscle pathological presentations were varied depending on the biopsied muscles and the severity of the disease. In-frame deletions of the MYH7 gene made up 3/4 of mutations in our patients, suggesting that these are common mutations of Laing distal myopathy. Conclusions Our study further expanded the phenotypes and genotypes of Laing distal myopathy. In-frame deletions of the MYH7 gene are common causes of Laing distal myopathy.

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Clinical Features and Genotypes of Laing Distal Myopathy in a Group of Chinese Patients, With In-Frame Deletions of MYH7 as Common Mutations

10.21203/rs.3.rs-38414/v1 ◽

2020 ◽

Author(s):

Meng Yu ◽

Ying Zhu ◽

Yuanyuan Lu ◽

He Lv ◽

Wei Zhang ◽

...

Keyword(s):

Clinical Features ◽

Fatty Infiltration ◽

Chinese Patients ◽

Distal Myopathy ◽

Muscle Mri ◽

Finger Extension ◽

Extensor Hallucis Longus ◽

Common Causes ◽

Severity Of The Disease ◽

Neurogenic Lesions

Abstract Background: Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients of Laing distal myopathy. Results: Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle dorsiflexion and finger extension weakness were common in our patients as well as neck flexion weakness. Myopathic as well as neurogenic lesions were suggested by electromyography in different patients. Respiratory abnormality of sleep apnea was detected in two of our patients stressing the necessity of close respiratory monitoring in this disease. Muscle MRIs showed similar features of concentric fatty infiltration of anterior thigh muscles together with early involvement of tibialis anterior and extensor hallucis longus. However, muscle pathological presentations were varied depending on the biopsied muscles and severity of the disease. In-frame deletions of the MYH7 gene made up 3/4 of mutations in our patients, suggesting these are common mutations of Laing distal myopathy. Conclusions: Our study further expanded the phenotypes and genotypes of Laing distal myopathy. In-frame deletions of MYH7 gene are common causes of Laing distal myopathy.

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Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

10.21203/rs.3.rs-38414/v2 ◽

2020 ◽

Author(s):

Meng Yu ◽

Ying Zhu ◽

Yuanyuan Lu ◽

He Lv ◽

Wei Zhang ◽

...

Keyword(s):

Clinical Features ◽

Fatty Infiltration ◽

Chinese Patients ◽

Distal Myopathy ◽

Muscle Mri ◽

Finger Extension ◽

Extensor Hallucis Longus ◽

Common Causes ◽

Severity Of The Disease ◽

Neurogenic Lesions

Abstract Background: Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients with Laing distal myopathy. Results: Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle dorsiflexion and finger extension weakness, as well as neck flexion weakness were common in our patients. Myopathic as well as neurogenic lesions were suggested by electromyography in different patients. Respiratory abnormality of sleep apnea was detected in two of our patients stressing the necessity of close respiratory monitoring in this disease. Muscle MRIs showed similar features of concentric fatty infiltration of anterior thigh muscles together with early involvement of tibialis anterior and extensor hallucis longus. However, muscle pathological presentations were varied depending on the biopsied muscles and the severity of the disease. In-frame deletions of the MYH7 gene made up 3/4 of mutations in our patients, suggesting that these are common mutations of Laing distal myopathy. Conclusions: Our study further expanded the phenotypes and genotypes of Laing distal myopathy. In-frame deletions of the MYH7 gene are common causes of Laing distal myopathy.

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Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study

Genes ◽

10.3390/genes12111786 ◽

2021 ◽

Vol 12 (11) ◽

pp. 1786

Author(s):

Guido Primiano ◽

Tommaso Verdolotti ◽

Gabriella D’Apolito ◽

Andrea Di Paolantonio ◽

Valeria Guglielmino ◽

...

Keyword(s):

Linear Regression Analysis ◽

Fatty Infiltration ◽

Inverse Correlation ◽

Transthyretin Amyloidosis ◽

Muscle Mri ◽

Muscle Involvement ◽

Disease Modifying Therapies ◽

Severity Of The Disease ◽

Hereditary Transthyretin Amyloidosis

Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous multisystem condition with a prevalent peripheral nervous system impairment, due to mutations in the transthyretin gene. Considering the introduction of different disease-modifying therapies in the last few years, a need of reliable biomarkers is emerging. In this study, we evaluated muscle MRI in a cohort of ATTRv patients in order to establish if the severity of muscle involvement correlated with disease severity. Linear regression analysis showed a significant positive correlation between the total fatty infiltration score and NIS, NIS-LL, and Norfolk, and an inverse correlation with Sudoscan registered from feet. In conclusion, we demonstrated the role of muscle MRI in ATTRv as possible disease biomarker, both for diagnostic purposes and for assessing the severity of the disease.

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Role of MRI evaluation in acute secondary inability to walk in children

Egyptian Journal of Radiology and Nuclear Medicine ◽

10.1186/s43055-021-00417-0 ◽

2021 ◽

Vol 52 (1) ◽

Author(s):

K. H. Sedeek ◽

K. Aboualfotouh ◽

S. M. Hassanein ◽

N. M. Osman ◽

M. H. Shalaby

Keyword(s):

Transverse Myelitis ◽

High Sensitivity ◽

Acute Disseminated Encephalomyelitis ◽

Limb Weakness ◽

Non Invasive ◽

Highly Sensitive ◽

Common Causes ◽

Bilateral Lower Limb ◽

Severity Of The Disease

Abstract Background Acute bilateral lower limb weakness is a common problem in children which necessitates a rapid method for diagnosis. MRI is a non-invasive imaging technique that produces high-quality images of the internal structure of the brain and spinal cord. Results MRI was very helpful in reaching rapid and prompt diagnosis in children with acute inability to walk. Acute disseminated encephalomyelitis (ADEM), Guillain–Barré syndrome (GBS), and acute transverse myelitis (ATM) were the most common causes in our study. MRI proved to be of high sensitivity in detecting the lesions and reaching the diagnosis in ADEM and GBS; however, there was no significant relation between the lesions’ size, enhancement pattern, and severity of the disease or prognosis, yet in ATM the site of the lesion and number of cord segment affection were significantly related to the severity of the disease and prognosis. Conclusion MRI is a quick tool to reach the diagnosis of children with acute secondary inability to walk, and to eliminate other differential diagnosis which is essential for proper treatment and rapid full recovery. It is highly sensitive in detecting the lesions, their site and size.

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SAT0332 ANTIBODIES AGAINST CYTOSOLIC 5’-NUCLEOTIDASE 1A IN SPORADIC INCLUSION BODY MYOSITIS: ASSOCIATION WITH CLINICAL AND MRI FEATURES

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2020-eular.3399 ◽

2020 ◽

Vol 79 (Suppl 1) ◽

pp. 1112.1-1112

Author(s):

R. Dejthevaporn ◽

S. Shah ◽

S. Wastling ◽

J. Thornton ◽

T. Yousry ◽

...

Keyword(s):

Inclusion Body ◽

Inclusion Body Myositis ◽

Rating Scale ◽

Fatty Infiltration ◽

Connective Tissue Diseases ◽

Diagnostic Process ◽

Antibody Testing ◽

Muscle Mri ◽

Mri Features ◽

Sporadic Inclusion Body Myositis

Background:Autoantibodies directed against cytosolic 5´-nucleotidase 1A (cN1A) have been identified in sporadic inclusion body myositis (sIBM) and other connective tissue diseases. Anti-cN1A antibodies may support the diagnostic process for sIBM as well as potentially provide clues for disease pathogenesis. Nevertheless, the utility of anti-cN1A autoantibody testing in clinical practice remains unclear and requires validation.Objectives:To investigate the association between anti-cN1A antibody status and clinical and MRI features in patients with sIBM.Methods:Data for patients fulfilling European Neuromuscular Centre (ENMC) 2011 criteria for sIBM were obtained from a natural history study database. Demographic, clinical, functional assessment, and muscle MRI data in patients with sIBM who had anti-cN1A autoantibody testing were collected and analysed. Comparisons between subgroups with anti-cN1A antibody status were performed with the Mann-Whitney or Fisher’s exact tests, as appropriate.Results:Forty-nine patients with sIBM had anti-cN1A autoantibody testing, of whom 17 (34.7%) were positive. Twelve patients had muscle MRI performed (seropositivity=5). Demographics, disease duration at antibody testing and overall disease pattern were closely matched in antibody positive and negative cohorts. Dysphagia was more common in the seropositive subgroup (77% vs 47%, p=0.070). Antibody positive patients were more severely affected with a trend to lower IBM functional rating scale (IBMFRS) scores (22.4±8.4 vs 26.7±6.4, p=0.09) with significantly worse ability to climb stairs (0.9±0.9, 1.7±1.1, p=0.02). On T1-weighted MRI more fatty infiltration was found in seropositive patients (Mercuri score: 3.0±0.8 vs 1.7±0.7, p=0.03). Short tau inversion recovery (STIR) hyperintensity was more conspicuous in seropositive patients (STIR extent score: 2.4±0.6 vs 1.4±0.7, p=0.04).Conclusion:There was a trend for more dysphagia and severity of dysphagia in seropositive patients. Differences in upper limb involvement were not seen according to IBMFRS and Medical Research Council (MRC) strength grades. Seropositive patients were more severely affected at the lower limb level, in terms of muscle weakness, physical function, MRI fatty infiltration and muscle inflammation. These results suggest positive antibody status is associated with a worse phenotype. These results have potential implications in clinical trials: whether antibody status influences treatment response should be assessed.Disclosure of Interests:Revadee Dejthevaporn: None declared, Sachit Shah: None declared, Stephen Wastling: None declared, John Thornton: None declared, Tarek Yousry: None declared, Jasper M Morrow: None declared, Pedro M Machado Consultant of: PMM: Abbvie, Celgene, Janssen, Lilly, MSD, Novartis, Pfizer, Roche and UCB, Speakers bureau: PMM: Abbvie, BMS, Lilly, MSD, Novartis, Pfizer, Roche and UCB

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Thigh and Leg Muscle MRI Findings in GNE Myopathy

Journal of Neuromuscular Diseases ◽

10.3233/jnd-210629 ◽

2021 ◽

pp. 1-8

Author(s):

Farzad Fatehi ◽

Soroor Advani ◽

Ali Asghar Okhovat ◽

Bentolhoda Ziaadini ◽

Hosein Shamshiri ◽

...

Keyword(s):

Tibialis Anterior ◽

Vastus Lateralis ◽

Fatty Infiltration ◽

Muscular Dystrophies ◽

Tibialis Posterior ◽

Muscle Mri ◽

Muscle Involvement ◽

Fat Infiltration ◽

Gne Myopathy ◽

Adductor Magnus

Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patterns can be identified in muscle MRI in the form of fatty infiltration. Objective: This study was conducted to add the existing knowledge of muscle MRI in GNE myopathy and evaluate the correlation of muscular involvement with different gene mutations. Methods: The MRI scans of the 18 GNE patients were analyzed retrospectively. Cluster analysis was done for grouping the muscles and patients. Results: The four muscles with the highest fat infiltration were adductor magnus, tibialis anterior, semitendinosus, and semimembranosus. Furthermore, three clusters of muscle involvement were found, including cluster 1, typical muscle involvement indicating muscles with the highest infiltration: extensor digitorum longus, gracilis, biceps femoris, soleus, gastrocnemius medial, adductor longus, tibialis anterior, adductor magnus, semimembranosus, semitendinosus; cluster 2, less typical muscle involvement indicating muscles with intermediate fat infiltration, peroneus longus, gastrocnemius lateral, and minimal fat infiltration in most of the patients, i.e., tibialis posterior; and cluster 3, atypical muscle involvement with low-fat infiltration: rectus femoris, sartorius, vastus intermedius, vastus medialis, and vastus lateralis. Conclusions: This study found three clusters of muscle involvement and three groups of patients among GNE patients. Hamstring muscles and the anterior compartment of the lower leg were the muscles with the highest fat infiltration. Moreover, a weak genotype-muscle MRI association was found in which tibialis posterior was more involved in patients with the most frequent mutation, i.e., C.2228T > C (p.M743T) mutation; however, this finding may be related to longer disease duration.

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Association Between Deep Posterior Cervical Paraspinal Muscle Morphology and Clinical Features in Patients With Cervical Ossification of the Posterior Longitudinal Ligament

Global Spine Journal ◽

10.1177/2192568221989655 ◽

2021 ◽

pp. 219256822198965

Author(s):

Toru Doi ◽

Nozomu Ohtomo ◽

Fumihiko Oguchi ◽

Keiichiro Tozawa ◽

Hiroyuki Nakarai ◽

...

Keyword(s):

Clinical Features ◽

Fatty Infiltration ◽

Neck Disability Index ◽

Posterior Longitudinal Ligament ◽

Paraspinal Muscle ◽

Paraspinal Muscles ◽

Muscle Area ◽

Cross Sectional ◽

Study Results ◽

Neck Disability

Study Design: A retrospective observational study. Objective: To clarify the association of the paraspinal muscle area and composition with clinical features in patients with cervical ossification of the posterior longitudinal ligament (OPLL). Methods: Consecutive patients with cervical OPLL who underwent cervical magnetic resonance imaging (MRI) before surgery were reviewed. The cross-sectional area (CSA) and fatty infiltration ratio (FI%) of deep posterior cervical paraspinal muscles (multifidus [MF] and semispinalis cervicis [SCer]) were examined. We assessed the association of paraspinal muscle measurements with the clinical characteristics and clinical outcomes, such as Neck Disability Index (NDI) score. Moreover, we divided the patients into 2 groups according to the extent of the ossified lesion (segmental and localized [OPLL-SL] and continuous and mixed [OPLL-CM] groups) and compared these variables between the 2 groups. Results: 49 patients with cervical OPLL were enrolled in this study. The FI% of the paraspinal muscles was significantly associated with the number of vertebrae ( ρ = 0.283, p = 0.049) or maximum occupancy ratio of OPLL ( ρ = 0.397, p = 0.005). The comparative study results indicated that the NDI score was significantly worse (OPLL-SL, 22.9 ± 13.7 vs. OPLL-CM, 34.4 ± 13.7) and FI% of SCer higher (OPLL-SL, 9.1 ± 1.7% vs. OPLL-CM, 11.1 ± 3.7%) in the OPLL-CM group than those in the OPLL-SL group. Conclusions: Our results suggest that OPLL severity may be associated with fatty infiltration of deep posterior cervical paraspinal muscles, which could affect neck disability in patients with cervical OPLL.

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Clinical Features and Prognosis of Adult-onset Still’s Disease: 61 Cases from China

The Journal of Rheumatology ◽

10.3899/jrheum.080365 ◽

2009 ◽

Vol 36 (5) ◽

pp. 1026-1031 ◽

Cited By ~ 48

Author(s):

TING ZENG ◽

YU-QIONG ZOU ◽

MEI-FANG WU ◽

CHENG-DE YANG

Keyword(s):

Prognostic Factors ◽

Clinical Features ◽

Chinese Patients ◽

Adult Onset Still’S Disease ◽

Disease Course ◽

Adult Onset ◽

Still’S Disease ◽

Laboratory Findings ◽

Still's Disease ◽

Adult Onset Still's Disease

Objective.To describe the onset, clinical features, prognostic factors, and treatment of adult-onset Still’s disease (AOSD) in cases from China.Methods.Sixty-one Chinese patients with AOSD were analyzed retrospectively.Results.Common clinical features were fever (100.0%), rash (88.5%), and arthritis (82.0%). The laboratory findings were as follows: leukocytosis (83.6%), increased erythrocyte sedimentation rate (100.0%), elevated transaminase concentrations (23.0%), elevated ferritin levels (79.6%), negative antinuclear antibody (88.5%), and negative rheumatoid factor (88.5%). Of the 61 patients, 44.3% exhibited a monocyclic disease pattern, 29.5% experienced disease relapse at least once, 16.4% exhibited chronic articular course, and 9.8% died; most deaths were due to pulmonary infection and respiratory failure. Based on the disease course, we divided the 61 patients into 2 groups: those with favorable outcome (cyclic disease course, n = 45) and unfavorable outcome (chronic disease course or death, n = 16). We analyzed the prognostic factors for the 2 groups, and found that pleuritis, interstitial pneumonia, elevated ferritin levels, and failure of fever to subside after 3 days of prednisolone at 1 mg/kg/day were unfavorable prognostic factors for patients with AOSD.Conclusion.Patients with AOSD had complex symptoms with no specific laboratory findings. Our results indicate that AOSD is not a relatively benign disease, especially in cases that are refractory to high doses of prednisone.

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