Limb-girdle muscular dystrophy type 2B mimicking polymyositis

Pimentel, Leonardo Halley Carvalho; Alcantara, Raimundo Neudson Maia; Fontenele, Sheila Márcia de Araújo; Costa, Carlos Maurício de Castro; Gondim, Francisco de Assis Aquino

doi:10.1590/s0004-282x2008000100019

Cited by 12 publications

(14 citation statements)

References 15 publications

(13 reference statements)

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“…The effectiveness of these drugs can vary with the specific type of muscular dystrophy, however. For example, prednisone and deflazacort have been used extensively in patients with DMD, but they have little or no benefit for individuals with limb girdle muscular dystrophies, including dysferlinopathies (Hussein et al, 2006;Pimentel et al, 2008;Walter et al, 2013). In preclinical studies, ibuprofen has been tested with and without the NO donor, ISDN, with murine models of DMD, a dystrophinopathy, and LGMD2D a-sarcoglycanopathy.…”

Section: Discussionmentioning

confidence: 99%

Effect of Ibuprofen on Skeletal Muscle of Dysferlin-Null Mice

Collier

Gumerson

Lehtimäki

et al. 2017

J Pharmacol Exp Ther

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Ibuprofen, a nonsteroidal anti-inflammatory drug, and nitric oxide (NO) donors have been reported to reduce the severity of muscular dystrophies in mice associated with the absence of dystrophin or -sarcoglycan, but their effects on mice that are dystrophic due to the absence of dysferlin have not been examined. We have tested ibuprofen, as well as isosorbide dinitrate (ISDN), a NO donor, to learn whether used alone or together they protect dysferlin-null muscle in A/J mice from large strain injury (LSI) induced by a series of high strain lengthening contractions. Mice were maintained on chow containing ibuprofen and ISDN for 4 weeks. They were then subjected to LSI and maintained on the drugs for 3 additional days. We measured loss of torque immediately following injury and at day 3 postinjury, fiber necrosis, and macrophage infiltration at day 3 postinjury, and serum levels of the drugs at the time of euthanasia. Loss of torque immediately after injury was not altered by the drugs. However, the torque on day 3 postinjury significantly decreased as a function of ibuprofen concentration in the serum (range, 0.67-8.2g/ml), independent of ISDN. The effects of ISDN on torque loss at day 3 postinjury were not significant. In long-term studies of dysferlinopathic BlAJ mice, lower doses of ibuprofen had no effects on muscle morphology, but reduced treadmill running by 40%. Our results indicate that ibuprofen can have deleterious effects on dysferlin-null muscle and suggest that its use at pharmacological doses should be avoided by individuals with dysferlinopathies.

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Section: Discussionmentioning

confidence: 99%

Effect of Ibuprofen on Skeletal Muscle of Dysferlin-Null Mice

Collier

Gumerson

Lehtimäki

et al. 2017

J Pharmacol Exp Ther

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“…Limb-girdle muscular dystrophies mimicking polymyositis has been described frequently in the literature ( Selva-O’Callaghan et al, 2006 ; Pimentel et al, 2008 ; Vinit et al, 2010 ; Angelini and Nigro, 2011 ; Jethwa et al, 2013 ). In the present study, muscle biopsy of nine subjects showed inflammatory changes mimicking the pathology seen in primary inflammatory myositis.…”

Section: Discussionmentioning

confidence: 99%

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

et al. 2022

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BackgroundTo characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.MethodsA descriptive observational study was done on a cohort of 112 Saudi Arabian families with LGMD. Screening for the Dysferlin (DYSF) gene was done in a tertiary care referral hospital in Saudi Arabia. Clinical, Neurophysiological, Radiological, Pathological, and Genetic findings in subjects with dysferlin mutation were the primary outcome variables. Statistical analysis was done by Epi-info.Results33 out of 112 families (29.46%) registered in the LGMD cohort had Dysferlinopathy. 53 subjects (28 males, 52.83%) from 33 families were followed up for various periods ranging from 1 to 28 years. The mean age of onset was 17.79 ± 3.48 years (Range 10 to 25 years). Miyoshi Myopathy phenotype was observed in 50.94% (27 out of 53), LGMDR2 phenotype in 30.19% (16 out of 53), and proximodistal phenotype in 15.09% (8 out of 53) of the subjects. Loss of ambulation was observed in 39.62% (21 out of 53 subjects). Electrophysiological, Radiological, and histopathological changes were compatible with the diagnosis. Mean serum Creatinine Kinase was 6,464.45 ± 4,149.24 with a range from 302 to 21,483 IU/L. In addition, 13 dysferlin mutations were identified two of them were compound heterozygous. One founder mutation was observed c.164_165insA in 19 unrelated families.ConclusionThe prevalence of Dysferlinopathy was 29.46% in the native Saudi LGMD cohort. It is the most prevalent subtype seconded by calpainopathy. The clinical course varied among the study subjects and was consistent with those reported from different ethnic groups. One founder mutation was identified. Initial screening of the founder mutations in new families is highly recommended.

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“…The recessive types are more widespread than dominant ones. The classic form of LGMD type 2B comes with some symptoms like weakness and atrophy in proximal muscles, but some phenotypic variants of this disease and other dysferlinopathies have been described (6). Former cohorts of LGMD done in North China and Northeast China reported that the most common LGMD subtypes were dysferlinopathies (49.52, 38.46%) and LGMD 2A (24.76, 46.15%), followed by sarcoglycanopathies (9.52, 7.69%) and LGMD 1B (6.67, 0%) (7,8).…”

Section: Discussionmentioning

confidence: 99%

Role of DYSF Genetic Variant in Limb Girdle Muscular Dystrophy: A Case Report

et al. 2021

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Introduction: Muscular dystrophy is a hereditary degenerative muscle disease which progressively reduces the strength of the muscles that control movement. In this study, we tried to investigate genetic variants in muscular dystrophy using sequencing of whole exons. Case Presentation: A family with two affected patients with muscular dystrophy was referred for genetic counseling followed by exome sequencing testing on the proband. After filling out informed consent, blood samples were obtained from each available family member. Candidate genetic variant was confirmed using Sanger sequencing. Conclusions: Exome data analysis revealed a variant of c.2864 + 1G > A in the proband, which altered the exon-intron 26 splice site within the DYSF gene. Genetic changes in this gene are known to be associated with muscular disorders, such as limb-girdle muscular dystrophy and other dysferlinopathies. Assessment of this genetic variant in the patient's sister also showed homozygous variant. Since the patient's sister was married to her cousin, the same variant was tested in her husband, which was normal homozygous. NGS-based techniques, including whole-exome sequencing, can identify the molecular genetic basis of the disease in families with limb-girdle muscular dystrophy. The results can be helpful in identifying potential carriers in the family and in prenatal diagnosis to the families involved.

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Limb-girdle muscular dystrophy type 2B mimicking polymyositis

Cited by 12 publications

References 15 publications

Effect of Ibuprofen on Skeletal Muscle of Dysferlin-Null Mice

Effect of Ibuprofen on Skeletal Muscle of Dysferlin-Null Mice

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

Role of DYSF Genetic Variant in Limb Girdle Muscular Dystrophy: A Case Report

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