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Total 155 results found since Jan 2013.

Progressive Myoclonus Epilepsies
Semin Neurol 2015; 35: 293-299DOI: 10.1055/s-0035-1552620The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht–Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. The prognosis o...
Source: Seminars in Neurology - June 10, 2015 Category: Neurology Authors: Kälviäinen, Reetta Source Type: research

Small‐nerve‐fiber pathology in critical illness documented by serial skin biopsies
Conclusion: Serial IENFD measurements confirmed the development of small‐fiber sensory involvement in the acute phase of critical illness. Muscle Nerve, 2015
Source: Muscle and Nerve - May 29, 2015 Category: Internal Medicine Authors: Miroslav Skorna, Roman Kopacik, Eva Vlckova, Blanka Adamova, Milena Kostalova, Josef Bednarik Tags: Research Article Source Type: research

Detecting Collagen VI in Bethlem Myopathy Letters
Zamurs et al. (1) investigated the functional consequences of a homozygous COL6A2 p.D871N mutation in muscle biopsy and fibroblast cultures of a recessive Bethlem myopathy patient. The authors reported the absence of collagen VI (col6) in muscle biopsy, a pattern considered distinctive for Ullrich congenital muscular dystrophy (UCMD). This finding appears inconsistent with the data provided for the patient's skin fibroblasts, which clearly show that col6 was secreted in the extracellular matrix (1). Moreover, other authors showed that recessive mutations in the α2(VI) C2 domain, with consequences similar to those reported...
Source: Journal of Biological Chemistry - March 20, 2015 Category: Chemistry Authors: Sabatelli, P., Gualandi, F., Bonaldo, P., Merlini, L. Tags: Letters Source Type: research

An unusual case of inflammatory necrotizing myopathy and neuropathy with pipestem capillaries
Anil Kumar B Patil, AT Prabhakar, Ajith Sivadasan, Mathew Alexander, Geeta ChackoNeurology India 2015 63(1):72-76Necrotizing myopathy with pipestem capillaries is a form of chronic inflammatory myopathy, with histopathology showing necrotizing myopathy, minimal cellular infiltration, and microangiopathy. A 30-year-old female presented with progressive limb weakness of 6 months, with skin pigmentation and Raynaud's phenomenon. Serum creatine phosphokinase was 3990 u/L. Muscle biopsy showed necrotic fibers, focal sparse perivascular inflammation/perifascicular atrophy, endomysial/epimysial vessel wall thickening with ...
Source: Neurology India - March 4, 2015 Category: Neurology Authors: Anil Kumar B PatilAT PrabhakarAjith SivadasanMathew AlexanderGeeta Chacko Source Type: research

Sarcoidosis. Martires, Kathryn; Shvartsbeyn, Marianna; Brinster, Nooshin; Ramachandran, Sarika; Franks Jr., Andrew G
We present a 28-year-old man with a one-year history of cutaneous lesions in old scars and tattoos with concomitant subcutaneous nodules and myopathy. A skin biopsy specimen showed cutaneous sarcoidosis. We discuss the multiple aspects of this case, which represent unique presentations of this systemic disease as well as review isomorphic and isotopic responses.
Source: Dermatology Online Journal - January 1, 2015 Category: Dermatology Source Type: research

Regional Ischemic Immune Myopathy: A Paraneoplastic Dermatomyopathy
AbstractNecrosis and regeneration of scattered muscle fibers are common features of many active acquired and immune myopathies. We studied a series of patients with acquired myopathies with an unusual pattern of regional, rather than scattered, muscle fiber necrosis and regeneration. Retrospective review of records of 7 patients with acquired myopathies having regional muscle fiber necrosis on muscle biopsy. Clinical features of patients included proximal symmetric weakness in arms and legs with a subacute onset (100%) beginning at ages between 41 and 92 years, with dysphagia (83%), myalgias (100%), skin rash (67%), and as...
Source: Journal of Neuropathology and Experimental Neurology - November 18, 2014 Category: Neurology Tags: Original Articles Source Type: research

Juvenile dermatomyositis, clinical manifestations and outcome in an Iranian cohort
Conclusions This study was in parallel with other reviews except for calcinosis which was observed with lower frequency. It is suggested that delay in diagnosis and treatment may be associated with calcinosis.
Source: Egyptian Pediatric Association Gazette - November 2, 2014 Category: Pediatrics Source Type: research

A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood.
Abstract A 10-year-old girl presented with exercise intolerance, learning difficulty, and muscle weakness in a limb girdle distribution. She had delayed achievement of motor milestones and difficulties with social interaction at pre-school age. Muscle biopsy showed no myopathic or dystrophic features, but 90% COX negative fibres and ragged blue fibres. Respiratory chain enzyme analysis in muscle showed a combined deficiency and mitochondrial DNA sequencing revealed the presence of an m.4450G>A mutation in the MT-TM gene encoding the tRNA for methionine. The mutation was only detected in mtDNA extracted from mus...
Source: European Journal of Paediatric Neurology - November 1, 2014 Category: Neurology Authors: Born AP, Duno M, Rafiq J, Risom L, Wibrand F, Ostergaard E, Vissing J Tags: Eur J Paediatr Neurol Source Type: research

Small nerve fiber pathology in critical illness documented by serial skin biopsies
Discussion: Serial IENFD measurements confirmed the development of small fiber sensory involvement in the acute phase of critical illness. © 2014 Wiley Periodicals, Inc.
Source: Muscle and Nerve - October 12, 2014 Category: Internal Medicine Authors: Miroslav Skorna, Roman Kopacik, Eva Vlckova, Blanka Adamova, Milena Kostalova, Josef Bednarik Tags: Research Article Source Type: research

C4d Staining as Immunohistochemical Marker in Inflammatory Myopathies
The diagnosis of an inflammatory myopathy is often established based on basic histologic studies. Additional immunohistochemical studies are sometimes required to support the diagnosis and the classification of inflammatory myopathies. Staining for major histocompatibility complex 1 (MHC1) often shows increased sarcolemmal labeling in inflammatory myopathies. Endomysial capillary staining C5b-9 (membrane attack complex) is a feature that is reported as frequently associated with dermatomyositis. Immunohistochemical staining for C4d is widely used for various applications including the assessment of antibody-mediated reject...
Source: Applied Immunohistochemistry and Molecular Morphology - October 1, 2014 Category: Chemistry Tags: Research Articles Source Type: research

Skin-deep; clues to the cause of proximal myopathy
A 50 year old gentleman re-presented to a neurology clinic with a 16 year history of upper limb girdle proximal weakness, progressively weak in his proximal lower limbs and with decline in exercise tolerance. He had been lost to follow-up following extensive tertiary-referral neurological investigation and three uninformative muscle biopsies ten years earlier. The presence of skin changes such as recent onset of extensive keloid scarring and cigarette paper scars on the skin prompted consideration of diagnosis of a collagen VI myopathy. Despite a lack of pathognomonic muscle changes on MRI, an autosomal dominant Bethlem My...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Reynolds, L., Warner, G. Tags: Abstracts Source Type: research

G.P.156: Mutations in FAM111B cause Hereditary Fibrosing Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis
In conclusion, HFP with tendon contracture, myopathy and pulmonary fibrosis, a phenotypically recognisable syndrome, is caused by autosomal dominant mutations in FAM111B gene. These findings provide genetic evidence for a new pathogenetic pathway for muscle impairment.
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: S. Mercier, S. Küry, A. Magot, N. Bodak, C. Bou-Hanna, V. Cormier-Daire, A. David, L. Faivre, D. Figarella-Branger, R. Gherardi, A. Goldenberg, A. Hamel, J. Igual, D. Israël-Biet, C. Kannengiesser, C. Laboisse, C. Le Caignec, A. Munnich, J.M. Mussini, J Source Type: research

Pulmonary pathologic manifestations of anti-glycyl-tRNA synthetase (anti-EJ)-related inflammatory myopathy
Conclusions Identifying ARS-associated autoantibodies in ILD patients with or without myopathy is desirable because patients may respond well to immunosuppressive therapy, and their prognosis is better than that of patients with idiopathic forms of DAD or UIP.
Source: Journal of Clinical Pathology - July 16, 2014 Category: Pathology Authors: Schneider, F., Yousem, S. A., Bi, D., Gibson, K. F., Oddis, C. V., Aggarwal, R. Tags: Immunology (including allergy), Muscle disease, Inflammation, Interstitial lung disease, Degenerative joint disease, Musculoskeletal syndromes, Clinical diagnostic tests Original article Source Type: research

Peripheral Neuromuscular Manifestations of Sarcoidosis (P4.124)
Conclusions: Peripheral neuromuscular manifestations were suspected in 75% of patients presenting to our clinics, and 29% of patients had confirmed neuropathy or myopathy. The higher frequency seen in our study as compared to the literature may be due to our center being a major neuromuscular tertiary referral centerDisclosure: Dr. Nayak has nothing to disclose. Dr. Dimachkie has received personal compensation for activities with Pfizer Inc, Depomed, Merck, CSL-Behring, Nufactor, Biomarin, and Catalyst. Dr. Dimachkie has received research support from CSL-Behring. Dr. Herbelin has nothing to disclose. Dr. McVey has nothing...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Nayak, L., Bittel, B., Wang, Y., Dimachkie, M., Herbelin, L., McVey, A., Barohn, R., Pasnoor, M. Tags: Neuropathy: Pathogenesis and Diagnostic Testing Source Type: research

Longest Living Reported Case of Congenital Myopathy with Excess of Muscle Spindles (P2.334)
CONCLUSIONS: Our patient lacks the cardiomyopathy seen in CMEMS, which likely contributes to his longevity. The question remains if CMEMS is sub-type of Costello syndrome or a separate nosological entity. One major barrier to comparison is that children with CMEMS have not lived past infancy. Observation of our patient may provide insight to the relationship between these two genetically similar syndromes.Disclosure: Dr. Henry has nothing to disclose. Dr. Shiloh-Malawsky has nothing to disclose. Dr. Rowe has nothing to disclose. Dr. Fan has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Henry, J., Shiloh-Malawsky, Y., Rowe, S., Fan, Z. Tags: Child Neurology and Developmental Neurology II Source Type: research