Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma

Feyma, Tim; Carter, Gregory T.; Weiss, Michael D.

doi:10.1002/mus.21046

Cited by 16 publications

(6 citation statements)

References 33 publications

(39 reference statements)

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“…Myotonic muscular dystrophy type 1, the predominant form of myotonic disorders, is caused by a repeated section of DNA on either chromosome 19 3,4. Rather than resulting in a missing protein product, this genetic defect results in abnormal RNAs, containing long expanses of CUG or CCUG repeats 3.…”

Section: Introductionmentioning

confidence: 99%

“…The effects of MMD1 repeat expansions affect many different pathways, triggering a complex set of signs and symptoms. Myotonic muscular dystrophy type 1 is a multisystem disorder that affects the visual, cardiac, respiratory, gastrointestinal, and endocrine systems 1,4. The brain is also commonly involved and learning disabilities are frequently seen 1.…”

Section: Introductionmentioning

confidence: 99%

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Impact of Biopsychosocial Factors on Chronic Pain in Persons With Myotonic and Facioscapulohumeral Muscular Dystrophy

Miró

Raichle

Carter

et al. 2009

Am J Hosp Palliat Care

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To assess the role of biopsychosocial factors in patients with type 1 myotonic and facioscapulohumeral muscular dystrophy (MMD1/FSHD) with chronic pain. Associations between psychosocial factors were found to be important in other samples of persons with pain and both psychological functioning and pain interference in a sample of patients suffering from MMD/FSHD. Prospective, multiple group, survey study of 182 patients with confirmed MMD1 and FSHD. Participants completed surveys assessing pain interference and psychological functioning, as well as psychosocial, demographic, and injury-related variables. Analyses indicated that greater catastrophizing was associated with increased pain interference and poorer psychological functioning, pain attitudes were significantly related to both pain interference and psychological functioning, and coping responses were significantly related only to pain interference. In addition, greater perceived social support was associated with better psychological functioning. The results support the use of studying pain in persons with MMD/FSHD from a biopsychosocial perspective, and the importance of identifying psychosocial factors that may play a role in the adjustment to and response to pain secondary to MMD/FSHD.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Impact of Biopsychosocial Factors on Chronic Pain in Persons With Myotonic and Facioscapulohumeral Muscular Dystrophy

Miró

Raichle

Carter

et al. 2009

Am J Hosp Palliat Care

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“…For example, although hypogammaglobulinemia and low lymphocyte counts occur in both DM types, they are especially prevalent in DM2 and are associated with an increased risk of autoimmune disease in DM2 18,19 . In addition, thymic hyperplasia and thymoma, as well as increased risk for other cancer types, have been reported in DM [20][21][22][23] . Although the immune phenotype contributes to DM1 and DM2 complexity, the consequence of MBNL depletion on adaptive immunity has not been investigated.…”

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confidence: 99%

Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood

et al. 2020

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The thymus is a primary lymphoid organ that plays an essential role in T lymphocyte maturation and selection during development of one arm of the mammalian adaptive immune response. Although transcriptional mechanisms have been well documented in thymocyte development, co-/post-transcriptional modifications are also important but have received less attention. Here we demonstrate that the RNA alternative splicing factor MBNL1, which is sequestered in nuclear RNA foci by C(C)UG microsatellite expansions in myotonic dystrophy (DM), is essential for normal thymus development and function. Mbnl1 129S1 knockout mice develop postnatal thymic hyperplasia with thymocyte accumulation. Transcriptome analysis indicates numerous gene expression and RNA mis-splicing events, including transcription factors from the TCF/LEF family. CNBP, the gene containing an intronic CCTG microsatellite expansion in DM type 2 (DM2), is coordinately expressed with MBNL1 in the developing thymus and DM2 CCTG expansions induce similar transcriptome alterations in DM2 blood, which thus serve as disease-specific biomarkers.

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“…Only seven patients with coexistence of MG and myotonic dystrophy have been reported previously 1-7. The coexistence of MG and myotonic dystrophy type 1 was confirmed in three of these patients,2,5,6 the authors did not report the results of genetic testing in another three of them,1,3,4 while MG and DM2 coexisted in the seventh case 7…”

Section: Discussionmentioning

confidence: 94%

The Coexistence of Myasthenia Gravis and Myotonic Dystrophy Type 2 in a Single Patient

et al. 2013

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BackgroundMyasthenia gravis (MG) and myotonic dystrophy type 2 (DM2) are rare disorders individually, and their coexistence in the same patient is very rare. We present a patient in which these two diseases coexisted.Case ReportThe patient complained of diplopia, fluctuating limb weakness, and difficulties in swallowing and speaking. A neurological examination revealed diplopia, facial, weakness of the neck and proximal limb muscles, dysphagia, dysphonia, and myotonia. The patient's mother had DM2 and her maternal grandfather had cataracts. MG was confirmed in our patient by positive results for neostigmine and a repetitive nerve stimulation test, and elevated serum anti-acetylcholine-receptor antibodies, while DM2 was confirmed by electromyography and genetic testing. The patient improved remarkably after treatment with anticholinesterases, corticosteroids, and azathioprine.ConclusionsThis is the second reported case of the coexistence of DM2 and MG in the same patient. Since the symptoms of these two diseases overlap it is very important to keep in mind the possibility of their coexistence, so that MG is not overlooked in patients with a family history of myotonic dystrophy.

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Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma

Cited by 16 publications

References 33 publications

Impact of Biopsychosocial Factors on Chronic Pain in Persons With Myotonic and Facioscapulohumeral Muscular Dystrophy

Impact of Biopsychosocial Factors on Chronic Pain in Persons With Myotonic and Facioscapulohumeral Muscular Dystrophy

Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood

The Coexistence of Myasthenia Gravis and Myotonic Dystrophy Type 2 in a Single Patient

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