Dysferlinopathy

Muscular dystrophy caused by mutations in the dysferlin (DYSF) gene, including limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy. OMIM: 603009

Networked: 176 relevant articles (6 outcomes, 24 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Muscular Dystrophies (Muscular Dystrophy)
2.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
3.	Disease Progression
4.	Limb-girdle muscular dystrophy type 2A
5.	Inclusion Body Myositis

Experts

1.	Krahn, Martin: 11 articles (01/2021 - 08/2005)
2.	Lévy, Nicolas: 9 articles (01/2021 - 08/2005)
3.	Gallardo, Eduard: 8 articles (01/2021 - 06/2006)
4.	Illa, Isabel: 8 articles (01/2021 - 06/2006)
5.	Aoki, Masashi: 7 articles (01/2020 - 05/2005)
6.	Suzuki, Naoki: 7 articles (01/2020 - 05/2005)
7.	Takahashi, Toshiaki: 7 articles (01/2020 - 05/2005)
8.	Bevilacqua, Jorge A: 6 articles (06/2020 - 02/2009)
9.	Halevy, Orna: 6 articles (01/2020 - 01/2013)
10.	Pines, Mark: 6 articles (01/2020 - 01/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dysferlinopathy:

1.	DysferlinIBA 01/01/2022 - "Dysferlin (DYSF) has drawn much attention due to its involvement in dysferlinopathy and was reported to affect monocyte functions in recent studies. " 10/01/2018 - "This dysferlin-deficient cell line should allow the study of pathophysiological pathways involved in dysferlin-deficient muscle and constitute a tool for high-throughput screening of therapeutic compounds for patients with dysferlinopathy and other muscle diseases." 01/01/2016 - "Studies in muscle tissue from dysferlinopathy patients or dysferlin-deficient mice point out its importance in membrane repair. " 10/29/2015 - "The purpose of this study was to explore the possible utility of dermal fibroblasts from dysferlin-deficient patients and SJL mice as a tool for studying dysferlinopathy. " 02/02/2012 - "Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy."
2.	SteroidsIBA 02/14/2013 - "This is an important finding, since steroid treatment should not be administered in patients with dysferlinopathy, who may be often misdiagnosed as polymyositis. " 01/01/2022 - "Most dysferlinopathy patients have muscle biopsies with inflammation and thus are vulnerable to misdiagnosis with polymyositis and inappropriate treatment with steroids and immunosuppressors. " 01/05/2017 - "Although the described patient reported partial clinical improvement in muscle pain, steroid treatment is not an effective therapy for dysferlinopathy patients and it did not prevent disease progression. " 06/01/2006 - "Summary of Neuromuscular Presentations at the 57 Annual AAN 2005 meeting in Miami Florida on topics of Facioscapulohumeral muscular dystrophy (FSHD), Duchenne muscular dystrophy (DMD), Diabetic Neuropathy, Charco Marie Tooth disease (CMT), Comparison of injected steroids versus Surgery for carpal tunnel syndrome, Rituximab in Anti-MAG associated polyneuropathy, Cannabis based medicine (CBM) in the treatment of neuropathic pain, utility of skin biopsy with intraepidermal nerve fiber density (IENFD) in sensory complaints, comparing sympathetic skin responses (SSRs) and skin biopsy in diagnosing small fiber sensory neuropathy, Chronic inflammatory demyelinating polyneuropathy (CIDP) clinical and electrophysiologic predictors, affect of limb warming in mild ulnar nerve conduction study (NCS) abnormalities, Tamoxifen affect in ALS, open label study of 3,4 DAP, Pyridostigmine and Ephedrine in fast channel syndrome, Mexilitine as an antimyotonia treatment in myotonic dystrophy (DM1), frontal lobe impairment evaluation in DM1 and DM2 patients and phenotype-genotype correlation in patients with dysferlinopathy."
3.	Complement Membrane Attack Complex (Membrane Attack Complex)IBA 01/01/2015 - "CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy." 12/01/2009 - "This study was performed in order to characterize the types of the infiltrating cells, and the expression profiles of major histocompatibility complex (MHC) class I and membrane attack complex (MAC) in patients with inflammatory myopathies and dysferlinopathy. " 01/01/2015 - "Immunohistochemical analysis revealed positive staining for immune response-related CD4+ cells, macrophages, MHC-I and C5b-9 in dysferlinopathy, which is in a different mode of polymyositis and DMD/BMD. " 01/01/2015 - "Comparative immunohistochemical analysis of inflammatory cell infiltration, and muscle expression of MHC-I and C5b-9 was performed using muscle biopsy samples from 14 patients with dysferlinopathy, 7 patients with polymyositis, and 8 patients with either Duchenne muscular dystrophy or Becker muscular dystrophy (DMD/BMD). " 01/01/2022 - "Compared to calpainopathy, Becker muscular dystrophy, and inflammatory myopathies, the unique profile of minimal inflammatory cell infiltrates, absent to focal MHC class I, and diffuse myofiber complement C5b-9 deposition is the pathologic signature of dysferlinopathy muscle biopsies."
4.	MyostatinIBA 01/01/2023 - "With adjustment for extra-muscular causes of variation, myostatin could form a surrogate measure of functional ability or muscle mass, however myostatin inhibition does not form a promising treatment target in dysferlinopathy." 01/01/2023 - "Myostatin was quantified twice with a three-year interval in 76 patients with dysferlinopathy and 38 controls. " 10/15/2015 - "Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy." 01/01/2023 - "Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy." 01/01/2023 - "This study assessed serum myostatin and follistatin concentrations as monitoring or prognostic biomarkers in dysferlinopathy, an autosomal recessively inherited muscular dystrophy. "
5.	deflazacortIBA 02/14/2013 - "We assessed the one-year-natural course of dysferlinopathy, and the safety and efficacy of deflazacort treatment in a double-blind, placebo-controlled cross-over trial. " 02/14/2013 - "After one year of natural course without intervention, 25 patients with genetically defined dysferlinopathy were randomized to receive deflazacort and placebo for six months each (1 mg/kg/day in month one, 1 mg/kg every 2nd day during months two to six) in one of two treatment sequences. " 02/14/2013 - "Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial."
6.	GlucocorticoidsIBA 01/01/2019 - "Glucocorticoids are candidates for the pharmacological treatment of dysferlinopathy. " 02/01/2010 - "Glucocorticoids are beneficial in many muscular dystrophies but they are ineffective in treating dysferlinopathy, a rare muscular dystrophy caused by loss of dysferlin. "
7.	Complement System Proteins (Complement)IBA 12/01/2010 - "These results demonstrate that complement-mediated muscle injury is central to the pathogenesis of dysferlinopathy and suggest that targeting the complement system might serve as a therapeutic approach for this disease." 12/01/2010 - "Here, we show that the complement system plays an important role in muscle pathology in dysferlinopathy. " 01/01/2022 - "Compared to calpainopathy, Becker muscular dystrophy, and inflammatory myopathies, the unique profile of minimal inflammatory cell infiltrates, absent to focal MHC class I, and diffuse myofiber complement C5b-9 deposition is the pathologic signature of dysferlinopathy muscle biopsies." 01/01/2022 - "In contrast, complement C5b-9 deposition was similar among dysferlinopathy, dermatomyositis, and inclusion body myositis biopsies but significantly greater than calpainopathy and Becker muscular dystrophy biopsies (p = 0.05). "
8.	eteplirsenIBA 10/02/2019 - "Recent advances in exon skipping have yielded promising results; the US Food and Drug Administration (FDA) approved eteplirsen (Exondys51) as the first exon-skipping drug for the treatment of Duchenne muscular dystrophy, and in vivo exon skipping has been demonstrated in animal models of dysferlinopathy, limb-girdle muscular dystrophy type 2C and congenital muscular dystrophy type 1A. "
9.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "2DE indicated somewhat diverse protein constellations between the dysferlinopathy and control groups. " 09/22/2010 - "In a patient presenting with a late-onset moderate dysferlinopathy, we identified a large homozygous deletion, leading to the production of a natural "minidysferlin" protein. " 09/22/2010 - "A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy." 12/01/2008 - "Dysferlinopathy: from gene to protein." 11/01/2023 - "The proteins identified herein are likely to contribute to our overall understanding of SM aging and dysferlinopathy disease progression."
10.	Creatine Kinase (Creatine Phosphokinase)IBA 01/01/2016 - "Thirty-one patients with genetically confirmed dysferlinopathy were assessed using the motor function measure (MFM), Modified Rankin Scale (MRS), Muscle Research Council (MRC) scale, serum creatine kinase (CK) assessment, baseline spirometry data, and echocardiographic and electrophysiologic studies. " 01/01/2008 - "Typical distribution of muscle involvement was demonstrated not by CT but by MRI which may have contributed to facilitating diagnosing the earliest stage of preclinical dysferlinopathy, presenting with asymptomatic elevation of serum creatine kinase." 01/01/2008 - "Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. " 01/01/2021 - "However, compared with EO dysferlinopathy patients (n = 48), LO patients more frequently showed atypical phenotypes (7 vs. 1; p = 0.014), including camptocormia, lower creatine kinase levels (2855 vs. 4394 U/L; p = 0.01), and higher NSAD (p = 0.008) and ACTIVLIM scores (p = 0.016). " 04/01/2013 - "The c.2997G>T mutation was associated with late onset, proximal dominant forms of dysferlinopathy, a high probability that muscle weakness started in an upper limb and lower serum creatine kinase (CK) levels. "

Therapies and Procedures

1.	Therapeutics 12/01/2021 - "This study comprehensively collected available DYSF variant data, which may pave way for genetic counselling and future clinical trial design for gene therapies in dysferlinopathy." 09/16/2023 - "Portrait of Dysferlinopathy: Diagnosis and Development of Therapy." 01/01/2020 - "As such, antisense-mediated exon skipping has been proposed as a therapy for dysferlinopathy. " 01/01/2017 - "There are currently no approved therapies that ameliorate or reverse dysferlinopathy. " 05/01/2005 - "This process may lead to future improvements in the therapy for human dysferlinopathy."
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 11/01/2013 - "The aim of our study was to evaluate the effect of bone marrow transplantation (BMT) using the A/J Dysf(prmd) mouse model of dysferlinopathy. "
3.	Transplantation 09/16/2023 - "The research fields for dysferlinopathy therapy include symptomatic treatments, as well as antisense-mediated exon skipping, myoblast transplantation, and gene editing."
4.	Ligation 08/01/2009 - "A newly developed kit for multiplex ligation-dependent probe amplification analysis of the dysferlin gene was used for a total of 12 samples from patients with suspected diagnosis of primary dysferlinopathy. "
5.	Lasers (Laser) 01/01/2018 - "In this article, we outline a simple two-photon laser wounding protocol for assessing cell membrane repair in vitro in both healthy and dysferlinopathy patient fibroblast cells transfected with or without a full-length dysferlin plasmid."