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FP.40 A cross-sectional study on LAMA2-related muscular dystrophy and SELENON-related myopathy, the first results of the LAST STRONG Study
LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are inherited myopathies characterized by slowly progressive proximal muscle weakness, spinal rigidity and respiratory insufficiency. Here we present baseline features of patients with LAMA2-MD and SELENON-RM in a 1,5-year natural history study to select outcome measures and reach trial readiness; the LAST STRONG study. The protocol consisted of neurological examinations, functional measurements, questionnaires, muscle ultrasound, pulmonary function tests, and Dual Energy Xray absorptiometry (DEXA)-scan.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: K. Bouman, J. Groothuis, J. Doorduin, N. van Alfen, F. Udink ten Cate, F. van den Heuvel, R. Nijveldt, A. Dittrich, J. Draaisma, M. Janssen, B. van Engelen, C. Erasmus, N. Voermans Source Type: research

Pattern analysis in Korean patients with distal myopathy using lower-limb MRI
Distal myopathy is a heterogeneous group of genetic muscle diseases characterized by predominant distal muscle weakness. Recently lower-limb MRI has been proven useful in pattern recognition and differential diagnosis of myopathy. Therefore, we aimed to investigate the usefulness of lower-limb MRI in Korean patients with distal myopathy. We retrospectively analyzed muscle MRI scans of 13 Korean patients with distal myopathy. They consisted of nine patients with dysferlinopathy and four patients with GNE myopathy in the pattern of muscle impairment between two groups.
Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: H. Park, J. Lee, S. Na, K. Park, Y. Choi Source Type: research

Muscle imaging in STIM1-mutated tubular aggregate myopathy patients
Tubular aggregate myopathy (TAM) is a genetically heterogeneous nosological entity characterized by tubular aggregates as the exclusive hallmark on muscle biopsy. Mutations in STIM1 have been recently identified as one molecular cause of a number of TAM cases. To characterize the pattern of muscle involvement in this disease, five STIM1-mutated patients were imaged at the upper and lower girdles, and the scans were compared with two patients with TAM not caused by mutations in STIM1. A common pattern of involvement was found in all STIM1-mutated patients, although with variable extent and severity of lesions.
Source: Neuromuscular Disorders - September 11, 2015 Category: Neurology Authors: G. Tasca, A. D'Amico, M. Monforte, A. Nadaj-Pakleza, M. Vialle, F. Fattori, J. Vissing, E. Ricci, E. Bertini Source Type: research

G.P.267: Nebulin-associated myopathy: New genetic and pathologic presentations
This study represents the disease associated with novel NEB mutations marked by the presence of additional pathological features, as well as nemaline rods. Although mixed pathology has been already reported in core-rod myopathy with NEB mutations, muscle pathology in these patients is more characteristic, and clinical manifestation is much milder compared with the previous ones. This report suggests the expanded clinical and pathological spectrum of nebulin-associated myopathy with new genetic and pathologic features. Further, next genome sequencing might be helpful for searching mutations in big, huge-sized genes, such as NEB.
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y.E. Park, S.H. Park, J.M. Lee, J.H. Shin, B.R. Kang, C.H. Lee, D.S. Kim Source Type: research

G.P.71: Inflammatory myopathy associated with anti-MDA5 antibodies: A new entity?
The anti-MDA5 auto-antibody (Ab) is specifically associated with a subgroup of dermatomyositis patients. Patients suffer from mainly extramuscular involvement (lung and skin) whereas clinical signs of myopathy are rather mild or absent. Although extra muscular lesions are well described, there are no reports about the affection of the muscle in terms of morphology and immunology. To describe the histological pattern of the skeletal muscle and the intrinsic immune response. Immunohistochemical analysis and molecular testing of a comprehensive panel of mediators involved in the immune response were performed by quantitative ...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y. Allenbach, G. Leroux, A. Rigolet, B. Hervier, T. Maisonobe, F.J. Authier, J. Aouizerate, N. Limal, A. Meyer, P. Hufnagl, N. Zerbe, C. Preusse, K. Mariampillai, S. Herson, O. Benveniste, W. Stenzel Source Type: research

G.P.72: Necrotizing auto-immune Myopathies: New myopathological aspects
Among acquired idiopathic inflammatory myopathies necrotizing auto-immune myopathy (NAM) has been recognized as distinct based on morphological features. Anti-SRP and antiHMCR antibody (Ab) are specifically associated with NAM. Data concerning histological features are sparse. We aim to describe the histological pattern of the muscle of a large series (N=44) of NAM-seropositive patients. Fiber necrosis and regeneration were defined based on specific histological features. For immohistochemical analysis, a semi-quantitative score (0–5) was used for MHC-I (e.g. 0: no overt expression, 2: focal over-expression more than 50%...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y. Allenbach, A. Rigolet, T. Stojkovic, A. Behin, B. Eymard, P. Laforet, K. Mariampillai, N. Zerbe, P. Hufnagl, C. Preusse, T. Maisonobe, S. Herson, H.H. Goebel, O. Benveniste, W. Stenzel Source Type: research

P.21.4 Combining MRI and muscle biopsy improves diagnostic accuracy in subacute-onset idiopathic inflammatory myopathy
In approximately 10–20% of patients suffering from subacute-onset idiopathic inflammatory myopathy (IIM) muscle biopsy is normal or shows non-specific findings. MRI can be used as triage test prior to a muscle biopsy and as add-on test if a muscle biopsy has proven to be non-diagnostic.A prospective study was performed on forty-eight consecutive patients with subacute-onset IIM of whom MRI scans of the skeletal muscles and muscle biopsies were systematically evaluated. The results of MRI, muscle biopsy findings and definite diagnosis including response to treatment which was considered the gold standard were collected an...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: M. de Visser, J. van de Vlekkert, M. Maas, J.E. Hoogendijk, I.N. Schaik Source Type: research

P.21.7 Rippling muscle disease associated with myasthenia gravis: A case report
We present a case of a man (66y.) hospitalized two years ago in the Medical University of Warsaw, Department of Neurology with muscle stiffness, pain, cramps and involuntary muscle rolling contraction provoked by mechanical stimuli. Fifteen years ago he experienced a 3months-long period of diplopia and ptosis. At that time MG was excluded on the basis of normal repetitive stimulation nerve (RNS) tests, SFEMG and normal chest CT scan. Acetylocholine receptor autoantibody (AChRAb) was not tested at that time. Cerebral arteries and brain stem pathology were excluded.Muscle symptoms which were the reason of the hospitalization...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: A. Lusakowska, M. Gawel, A.M. Kaminska Source Type: research

O.23 A novel desmin mutation causes autosomal recessive limb girdle muscular dystrophy without features of myofibrillar myopathy
This study expands the spectrum of phenotypes associated with DES mutations and identifies a novel LGMD2 subtype.
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: N. Cetin, B. Balci-Hayta, H. Gundesli, P. Korkusuz, N. Purali, B. Talim, E. Tan, D. Selcen, S. Erdem-Ozdamar, P. Dincer Source Type: research

P.5.2 A comparison of muscle imaging in DYSF and ANO5 related muscular dystrophies
In this descriptive retrospective and cross-sectional study we compared muscle images of patients with Miyoshi distal myopathy phenotype (MMD1 and MMD3) to limb girdle muscular dystrophy 2L (LGMD2L) patients. MMD1 and MMD3 are genetically heterogenous diseases based on DYSF and ANO5 gene defects. MMD3 and LGMD2L are clinically different diseases caused by an ANO5 gene defect. A total of 35 muscle imaging studies of MMD1, MMD3 and LGMD2L patients was evaluated for fatty degeneration, muscle hypertrophy or atrophy and asymmetric muscle involvement.Eight muscle imaging scans of six MMD1 patients, 11 scans of nine MMD3 patient...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: L. ten Dam, A.J. van der Kooi, F. Rövekamp, W.H. Linssen, M. de Visser Source Type: research

O.23 A novel desmin mutation causes autosomal recessive limb girdle muscular dystrophy without features of myofibrillar myopathy
This study expands the spectrum of phenotypes associated with DES mutations and identifies a novel LGMD2 subtype.
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: N. Cetin, B. Balci-Hayta, H. Gundesli, P. Korkusuz, N. Purali, B. Talim, E. Tan, D. Selcen, S. Erdem-Ozdamar, P. Dincer Source Type: research

P.21.7 Rippling muscle disease associated with myasthenia gravis: A case report
We present a case of a man (66y.) hospitalized two years ago in the Medical University of Warsaw, Department of Neurology with muscle stiffness, pain, cramps and involuntary muscle rolling contraction provoked by mechanical stimuli. Fifteen years ago he experienced a 3months-long period of diplopia and ptosis. At that time MG was excluded on the basis of normal repetitive stimulation nerve (RNS) tests, SFEMG and normal chest CT scan. Acetylocholine receptor autoantibody (AChRAb) was not tested at that time. Cerebral arteries and brain stem pathology were excluded.Muscle symptoms which were the reason of the hospitalization...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: A. Lusakowska, M. Gawel, A.M. Kaminska Source Type: research

P.21.4 Combining MRI and muscle biopsy improves diagnostic accuracy in subacute-onset idiopathic inflammatory myopathy
In approximately 10–20% of patients suffering from subacute-onset idiopathic inflammatory myopathy (IIM) muscle biopsy is normal or shows non-specific findings. MRI can be used as triage test prior to a muscle biopsy and as add-on test if a muscle biopsy has proven to be non-diagnostic.A prospective study was performed on forty-eight consecutive patients with subacute-onset IIM of whom MRI scans of the skeletal muscles and muscle biopsies were systematically evaluated. The results of MRI, muscle biopsy findings and definite diagnosis including response to treatment which was considered the gold standard were collected an...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: M. de Visser, J. van de Vlekkert, M. Maas, J.E. Hoogendijk, I.N. Schaik Source Type: research

P.5.2 A comparison of muscle imaging in DYSF and ANO5 related muscular dystrophies
In this descriptive retrospective and cross-sectional study we compared muscle images of patients with Miyoshi distal myopathy phenotype (MMD1 and MMD3) to limb girdle muscular dystrophy 2L (LGMD2L) patients. MMD1 and MMD3 are genetically heterogenous diseases based on DYSF and ANO5 gene defects. MMD3 and LGMD2L are clinically different diseases caused by an ANO5 gene defect. A total of 35 muscle imaging studies of MMD1, MMD3 and LGMD2L patients was evaluated for fatty degeneration, muscle hypertrophy or atrophy and asymmetric muscle involvement.Eight muscle imaging scans of six MMD1 patients, 11 scans of nine MMD3 patient...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: L. ten Dam, A.J. van der Kooi, F. Rövekamp, W.H. Linssen, M. de Visser Source Type: research