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A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation
In this report, we describe two Brazilian siblings, aged 13 and 6 years, with a novel homozygous mutation (c.8872 C>T:p.Arg2958Ter) in the SPEG gene leading to a congenital myopathy. In the older sibling, the muscle biopsy showed fiber size disproportion.
Source: Neuromuscular Disorders - September 21, 2021 Category: Neurology Authors: Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme Ferraz Messina de P ádua Andrade, Maria de Fátima Derlene, Zilda Maria Alves Meira, Beatriz Vilela Morais Azevedo, Wilson Campos Jr, Sabrina Stephanie Lana Diniz, Marina Belisario Carvalhais, Julia Tags: Case report Source Type: research

Autoimmune & inflammatory nmd
Sporadic late-onset nemaline myopathy (SLONM) is characterized by the presence of nemaline bodies in skeletal muscle biopsies. SLONM is a non-hereditary myopathy usually affecting adults in 5th-7th decade and the most common clinical presentation is proximal muscle weakness. SLONM can be classified into 2 major subtypes considering its association with monoclonal gammopathy (1) SLONM without MGUS (SLONM-noMGUS) and (2) with MGUS (SLONM-MGUS) association. SLONM-MGUS has been shown to be associated with poorer prognosis and required aggressive treatment including high dose melphalan and autologous stem cell transplantation.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: J. Tanboon, A. Uruha, Y. Arahata, C. Dittmayer, L. Schweizer, H. Goebel, I. Nishino, W. Stenzel Source Type: research

Mild form of Danon disease: two case reports
Danon disease (OMIM: 300257) is an X-linked dominant lysosomal storage disease characterized by the triad of cardiomyopathy, myopathy, and mental retardation [1]. The causative gene is lysosome-associated membrane protein-2 (LAMP-2), which plays an important role in autophagosome-lysosome fusion in autophagy [2]. Typically, cardiomyopathy is remarkably severe in male patients, requiring heart transplantation; otherwise, it is lethal by their mid-twenties [1,3,4]. We herein report two unrelated male patients showing mild manifestations of Danon disease.
Source: Neuromuscular Disorders - August 2, 2021 Category: Neurology Authors: Toshio Yasui, Utako Nagaoka, Yasushi Oya, Akinori Uruha, Jun Karashima, Asuka Funai, Kazuhito Miyamoto, Shiro Matsubara, Keizo Sugaya, Kazushi Takahashi, Michio Inoue, Mariko Okubo, Kazuma Sugie, Ichizo Nishino Tags: Case report Source Type: research

Cyclophosphamide, thalidomide, and dexamethasone as alternative treatment regimen for sporadic late onset nemaline myopathy associated with monoclonal gammopathy of undetermined significance
We report a case of 33-year-old man with a 5-month history of proximal muscle weakness who later develop neck weakness and require tracheostomy.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: J. Tanboon, T. Kumutpongpanich, W. Owattanapanich, T. Sangruchi, K. Boonyapisit, I. Nishino Source Type: research

Increased cardiac muscle autophagy in a child with restrictive cardiomyopathy, proximal myopathy and neuropathy due to a mutation in the BAG3 (Pro209Leu) gene
We report an 8-year-old boy with nocturnal hypoventilation since age 5 years, who underwent heart transplantation (HTX) due to severe RCM at age 7 years.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: A. Sch änzer, S. Rupp, G. Mall, H. Akintürk, D. Schramz, L. Gulatz, J. Thul, N. Mazhari, A. Hahn Source Type: research

Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy
• V122I ATTR is the commonest cause of familial amyloid cardiomyopathy• Neuromusclar amyloidosis has not been previous described with this mutation• Extra-cardiac involvement may reduce risk associated with tissue diagnosis• Cardiac transplant is precluded by extra-cardiac disease• New treatments for hereditary transthyretin amyloidosis are promising
Source: Neuromuscular Disorders - February 13, 2015 Category: Neurology Authors: AS Carr, AL Pelayo-Negro, Z Jaunmuktane, RS Scalco, D Hutt, MRB Evans, E Heally, S Brandner, J Holton, J Blake, CJ Whelan, AD Wechalekar, JD Gillmore, PN Hawkins, MM Reilly Tags: Case report Source Type: research

G.O.28: Sporadic late onset nemaline myopathy with MGUS: long term follow-up after melphalan and autologous stem cell transplantation
Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. Limb-girdle and axial weakness and atrophy predominate the clinical picture. Distal weakness, head drop, respiratory insufficiency, and dysphagia can also occur. Recognition of nemaline rods on trichrome staining in the biopsy is crucial. This can be confirmed by immunohistochemical staining of the muscle biopsy with alpha-actinin antibodies and by electron microscopy. SLONM is in a significant proportion (50 %) of cases associated with a monoclonal gammopathy of unknown significance (MGUS), a combination which portends...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: N.C. Voermans, O. Benveniste, M. Minnema, H. Lokhorst, M. Lammens, W. Meersseman, M. Delforge, T. Kuntzer, J. Novy, T. Pabst, F. Bouhour, N. Romero, V. Leblond, P. Van den Bergh, M.C. Vekemans, B. Engelen, B. Eymard Source Type: research

G.P.150: Clinical heterogeneity in adult forms of FHL1 related myopathies. The “Institut de Myologie” experience
FHL1 gene mutations are responsible for reducing body myopathy (RBM), a rare condition characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates. Age at onset ranges from early onset in infancy, through childhood and in some cases adult age. FHL1 mutations may also lead to allelic disorders including Emery-Dreifuss like muscular dystrophy (EDMD), hypertrophic cardiomyopathy (HCM), X-linked myopathy with postural muscle atrophy and generalized hypertrophy (X-MPMA) and X-linked scapuloperoneal myopathy (X-SM). To report clinical, muscle imaging, histological and genetic features found of ad...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: R.A.B. Ben Yaou, T.A.N. Stojkovic, P.A.S. Laforet, A.L.I. De Becdelievre, H.E.N. Becane, K.A.R. Wahbi, C.A.R. Navarro, M.I.C. Fardeau, N.O.R. Romero, P.A.S. Richard, D.E.N. Duboc, G.I.S. Bonne, B.R.U. Eymard Source Type: research

G.P.145: LMNA-related muscular dystrophies: Clinical and histopathological spectrum in Argentina
Conclusion: There is a broad clinical spectrum of laminopathies, including a congenital form. Even when muscle biopsy shows inflammation or features suggestive of congenital myopathy, the clinical phenotype should prompt molecular testing for lamin A/C mutations to prevent cardiac complications.
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: S. Monges, F. Lubieniecki, F. de Castro, V. Lafuente, M. Gonzalez, G. Reyes, L. Chertkoff, S. Quijano-Roy, N.B. Romero, P. Richard, G. Bonne, P. Guicheney, M. Sacolitti, A.L. Taratuto Source Type: research

P.15.9 An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum
This report describe a family with Danon disease, a rare X-linked dominant condition, but an important differential diagnosis for patient with cardiomyopathy, myopathy and learning difficulty, having a strong family history of cardiomyopathy. While skeletal muscles biopsy showed vacuolar myopathy, these abnormal vacuolar changes also extended to the cardiac muscles. Diagnostic confirmation is important when counseling the long term prognosis for this family. While symptomatic treatment is available for the heart failure, with a progressive course of cardiomyopathy the ultimate cure is heart transplantation.
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: S.H.S. Chan, A. Kan, H.F. Tse Source Type: research