Proximal myotonic myopathy

Ricker, K.; Koch, Manuela C.; Lehmann‐Horn, Frank; Pongratz, D.; Otto, Michael; Heine, Roland; Moxley, RT

doi:10.1212/wnl.44.8.1448

Cited by 231 publications

(117 citation statements)

References 24 publications

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“…Myotonic dystrophy type 2 (DM2; MIM #602688), or Ricker's disease, is a multisystemic hereditary degenerative pathology, clinically resembling myotonic dystrophy type 1 (DM1; MIM #160900), or Steinert's disease. 1,2 The main characteristics in both diseases are clinical or electrical myotonia, dystrophic changes of muscles, bilateral cataract with early onset, together with a variable presence of dismetabolic changes, cardiac rhythm alterations, alopecia, selective IgG and IgM deficits, and decreased fertility. 3,4 From a clinical point of view, DM2 affects mainly proximal muscles and hips, a distinctive distribution commonly recognized as PROMM (proximal myotonic myopathy).…”

Section: Myotonic Dystrophy Type 2 (Dm2 Omim #602688) Is a Multisysmentioning

confidence: 99%

Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

Catalli

Morgante

Iraci³

et al. 2010

The Journal of Molecular Diagnostics

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Myotonic dystrophy type 2 (DM2 , OMIM #602688) is a multisystemic hereditary degenerative disease caused by a tetranucleotide CCTG expansion in the ZNF9gene. Routine testing strategies for DM2 require the use of Southern blot or long-range PCR , but the presence of very large expansions and wide somatic mosaicism greatly reduce the sensitivity of these reference techniques. We therefore developed and validated a tetraplet-primed PCR (TP-PCR) method to detect the DM2 mutation by testing 87 DM2-positive and 76 DM2-negative previously characterized patients. The specificity of this technique was evaluated including DNA samples from 39 DM1-positive patients. We then attempted a prospective analysis of 50 patients with unknown genotype who referred to our center for diagnostic or presymptomatic tests. Results show that TP-PCR is a fast , reliable , and flexible technique , whose specificity and sensitivity is almost 100% , with no false positive or negative results either in retrospective and prospective applications. We therefore conclude that using this technique , in combination with the short-range PCR , is sufficient to correctly establish the presence or the absence of ZNF9 expanded alleles in the molecular diagnosis of DM2.

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Section: Myotonic Dystrophy Type 2 (Dm2 Omim #602688) Is a Multisysmentioning

confidence: 99%

Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

Catalli

Morgante

Iraci³

et al. 2010

The Journal of Molecular Diagnostics

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“…There are 2 clinically distinguished types: type 1, with the classical phenotype caused by an expansion of an unstable CTG trinucleotide repeat in the 3′ untranslated region of the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q13.3 (24), and type 2, with a more proximal pattern of weakness (25) caused by an expansion of a CCTG tetranucleotide repeat in intron 1 of the ZNF9 gene coding for a zinc finger protein (26). The pathogenesis of the myotonia is based on an alternative splicing of the ClC-1 RNA, leading to loss of function of the channel protein (4,5).…”

Section: Chloride Channel Myotonia In Myotonic Dystrophiesmentioning

confidence: 99%

Muscle channelopathies and critical points in functional and genetic studies

Jurkat‐Rott

Lehmann‐Horn²

2005

Journal of Clinical Investigation

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Muscle channelopathies are caused by mutations in ion channel genes, by antibodies directed against ion channel proteins, or by changes of cell homeostasis leading to aberrant splicing of ion channel RNA or to disturbances of modification and localization of channel proteins. As ion channels constitute one of the only protein families that allow functional examination on the molecular level, expression studies of putative mutations have become standard in confirming that the mutations cause disease. Functional changes may not necessarily prove disease causality of a putative mutation but could be brought about by a polymorphism instead. These problems are addressed, and a more critical evaluation of the underlying genetic data is proposed.

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“…Recently myotonic dystrophy type 1 (DM1) results from an unstable expansion of a CTG repeat in 3' untranslated region of myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q 13.3 (12). Myotonic dystrophy type 2 (DM2) results from an unstable expansion of a CCTG tetraplet repeat in intron 1 or the zinc finger 9 (ZNF9) gene on chromosome 3q 21.3 (13)(14)(15). DM2 cases have not been reported in Japan, but many DM2 cases have been reported in Germany, Italy, Finland, and America and the comparison of different clinical manifestations between DM1 and DM2 has been done as listed in the Table 1.…”

Section: History Of Myotonia Researchmentioning

confidence: 99%

New Classification and Treatment for Myotonic Disorders

Kurihara

2005

Intern. Med.

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Myotonia is repetitive firing of muscle action potentials causing prolonged muscle contractions even after mechanical stimulations to the muscles have ceased. Most common myotonic disorder is myotonic dystrophy which is now termed DM1, myotonic dystrophy type 1. In Japan, proximal myotonic myopathy, which is now called DM2 has not been reported. Both DM1 and DM2 have Cl channel abnormality which causes myotonia. Less commonly we encounter Thomsen's disease, and autosomal recessive generalized myotonia (Becker type) which also have a Cl channel abnormality. There are other myotonic disorders related to Na channelopathy which include three disorders: paramyotonia congenita, adynamia episodica hereditaria, and myotonia fluctuans. Myotonia has been treated by various Na channel blockers, mexiletine, phenytoin, and carbamazepine, but they were originally developed for cardiac arrhythmia, or seizure disorders and they have undesirable side effects, weakness. Comprehensive treatment includes myotonia control without reducing the strength, and care for systemic manifestations of DM1.

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Proximal myotonic myopathy

Cited by 231 publications

References 24 publications

Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

Muscle channelopathies and critical points in functional and genetic studies

New Classification and Treatment for Myotonic Disorders

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