Failure of mbnl1dependent postnatal splicing transitions in. A repeat length exceeding 50 ctg repeats is pathogenic musova et al. Myotonic dystrophy types 1 dm1 and 2 dm2 are autosomal dominant, microsatellite repeat expansion disorders that affect muscle function. With no drugs approved for the treatment of dm1, patients are typically treated with drugs to address symptoms of the disease. Steinerts disease and myotonic dystrophy type 2 dm2. Abstract myotonic dystrophy dystrophia myotonica, dm is the most frequently inherited neuromuscular disease. If rcts do not exist, the need for rcts and the most appropriate trial designs and outcomes will be considered in the discussion in the context of nonrandomised studies.
Recommendations regarding management are based more on. Dm is an inherited disease, affecting males and females. Myotonic dystrophy and pain management of a patient undergoing total abdominal hysterectomy in a. It is probably more common in central europe and the usa than the rest of the world.
Myotonic dystrophy protein kinase dmpk and its role in the. Myotonic dystrophy dm is an autosomal, dominant inherited, neuromuscular disorder that was first described by steinert in 1909. Current disease models for dm1 and dm2 propose a common pathomechanism, whereby the transcription of mutant dmpk dm1 and cnbp dm2 genes results in the. Similar clinical features of dm1 and dm2 include myotonia and limb muscle. In myotonic dystrophy type 1, the classic disease range of ctg. Peripheral nerve involvement in myotonic dystrophy type 2 similar or different than in myotonic dystrophy type 1. Myotonic dystrophy can affect both males and females. Feb 10, 2014 myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems e.
Description myotonic dystrophy dm, also called dystrophia myotonica, myotonia atrophica, or steinerts disease, is a common form of muscular dystrophy. What is the latest in myotonic dystrophy dm research. Dystrophy definition is a condition produced by faulty nutrition. Myotonic muscular dystrophy dystrophia myotonica dm is a rare musculoskeletal disease with a prevalence of 1 in 8,000 1. Dystrophia definition of dystrophia by the free dictionary. Myotonic dystrophy and pain management of a patient undergoing total abdominal hysterectomy in a metropolitan general hospital. Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems e. Dystrophia myotonica definition of dystrophia myotonica by. Short tandem repeat str or microsatellite, expansions underlie more than 50 hereditary neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 dm1 and 2 dm2. Myotonic dystrophy type 2 found in two of sixtya wiley online library. Myotonic muscular dystrophy is often known simply as myotonic dystrophy and is occasionally called steinerts disease, after a doctor who originally described the disorder in 1909. Myotonic dystrophy type 2 genetic and rare diseases.
Dm2, recognized in 1994 as a milder version of dm1 these autosomal dominant conditions are among the most common forms of adultonset muscular dystrophy. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. Dm1 steinert disease and dm2 promm, proximal myotonic myopathy. There are two genetically distinct types, dm1 and dm2. It is a clinically and genetically heterogeneous disease with two distinct forms. Signs and symptoms usually develop during a persons twenties or thirties. Myotonic dystrophy often is abbreviated as dm in reference to its greek name, dystrophia myotonica. The similarity of splicing changes in dm1 and dm2 5 suggests that. A 12yearold boy with a previous diagnosis of congenital md type 1 cytosinethymineguanine triplet expansion in the 3nontranslated region of the dystrophia myotonica protein kinase gene was admitted in november 2016 because of symptoms of bowel obstruction after complaining of abdominal pain, vomiting, and diarrhea for 2 days. As a first step, we compared in dm1 and dm2 muscle biopsies, the. Dm1, for a century known as steinert disease dm2, recognized in 1994 as a milder version of dm1 these autosomal dominant conditions are among the most common forms of adultonset muscular dystrophy. Myotonic dystrophy type 2 dm2, also known as proximal myotonic myopathy promm, normally leads to abnormal muscle relaxation in late adulthood and manifests as increasing muscle weakness and muscle stiffness. Peripheral neuropathy in patients with myotonic dystrophy.
People with dm2 do not usually have the same kind of facial muscle weakness or swallowing problems that are often seen in dm1. There are some clinical similarities with myotonic myopathy type 1 dm1, or steinert disease, which also results in. Proximal muscles, or those closer to the center of the body, tend to be more affected in dm2. Myotonic dystrophy type 2 dm2 myotonic dystrophy support. Dm is an inherited disease, affecting males and females approximately equally. Multisystem manifestations of myotonic dystrophies type 1 dm1 and 2 dm2 are well known. The entire spectroscopy system is enclosed and controlled via labview software. Background myotonic dystrophy type 2 dm2 is a recently discovered adult. Myotonic dystrophy dm is caused by two different mutations. Myotonic dystrophy type 1 dm1 expansion therapeutics. Myotonic dystrophy and cancer susceptibility national. Recently in the last couple of years i have been having many health issues with symptoms as follows fatigue.
Two genetic forms of myotonic dystrophy have been identified. Laboratory abnormalities in patients with myotonic dystrophy. Myotonic dystrophy definition myotonic dystrophy is a progressive disease in which the muscles are weak and are slow to relax after contraction. Although dm1 patients can present at any age, those with dm2 present in adulthood, and generally have less severe symptomatology than dm1 patients 26, 29. Myotonic dystrophy dm, also called dystrophia myotonica, myotonia atrophica, or steinerts disease, is a common form of muscular dystrophy. The involvement of the peripheral nervous system was found in 25%45% of patients with myotonic dystrophy type 1, although limited data are available concerning polyneuropathy in patients with dm2, which was the aim of this study with a thorough presentation of the cases with peripheral neuropathy. Dystrophia myotonica article about dystrophia myotonica by. Dm presents in two forms, dm1 and dm2, both of which are caused by nucleotide repeat expansions. It is characterized by prolonged muscle tensing as well as muscle weakness, pain, and stiffness.
Myotonic dystrophy is a lifelong disease that typically requires long term care. Two differing types of dm have been identified dm1 and dm2. An antisense compound for use in treating myotonic dystrophy dm1 or dm2, comprising an antisense oligonucleotide having 830 bases, with at least 8 contiguous bases being complementary to the polycug or polyccug repeats in the 3. Myotonic dystrophy is an inherited condition, and the commonest muscular dystrophy of adult life, affecting around 1 in 8000 adults. Myotonic dystrophy type 2 dystrophia myotonica type 2 dm2 is an autosomal dominant multi. A second, less common form of myotonic dystrophy, dm type 2 dm2, is caused by expansion of a cctg repeat in intron 1 of the zinc finger 9 znf9 gene. Myotonic dystrophy, also referred to as dystrophia myotonica or steinerts disease 7, is named after the german physician who first described the condition in 1904. Jci insight distinct pathological signatures in human cellular. Myotonic dystrophy nord national organization for rare. Myotonic dystrophy dm is a complex multisystemic disorder linked to two different genetic loci. The myotonic dystrophy type 2 dm2 gene product zinc. People with this disorder often have prolonged muscle contractions myotonia and are not able to relax certain muscles after use. The myotonic dystrophy type 2 dm2 gene product zinc finger protein 9 znf9 is associated with sarcomeres and normally localized in dm2 patients muscles.
Recommendations regarding management are based more on consensus and clinical experience than on. Myotonic dystrophy type 2 dm2 medizinisch genetisches zentrum. Anesthetic considerations in a patient with myotonic dystrophy for hip labral repair. Myotonic dystrophy type2 dm2 is a recently discovered adult muscular. Dystrophia myotonica synonyms, dystrophia myotonica pronunciation, dystrophia myotonica translation, english dictionary definition of dystrophia myotonica.
Researchers from zhengzhou childrens hospital combined acupuncture, far infrared therapy, tcm tuina massage, herbal medicine, and drug therapy into a protocolized regimen of care. Sep 21, 2006 myotonic dystrophy type 2 dm2 is characterized by myotonia and muscle dysfunction proximal and axial weakness, myalgia, and stiffness, and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulininsensitive type 2 diabetes mellitus, and other endocrine abnormalities. Dystrophia myotonica dm1 scandinavian consensus program page7 impaired cognitive function is the main reason for dm patients to have lower. In 1992, the dm1 mutation was identified as the expansion of an unstable ctgrepeat in the 3untranslated region of a gene encoding dmpk myotonic dystrophy protein kinase. Medical management this section addresses medical management of the many symptoms of adultonset dm1 and dm2, as well as childhoodonset dm1. It is characterized by prolonged muscle tensing myotonia as well as muscle weakness, pain, and stiffness. Practical suggestions for the anesthetic management of a.
While myotonia involuntary muscle contraction with delayed relaxation has been reported. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy type 2 dm2 is characterized by myotonia and muscle dysfunction proximal and axial weakness, myalgia, and stiffness, and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulininsensitive type 2 diabetes mellitus, and other endocrine abnormalities. Multidisciplinary surveillance and management of these and other issues is optimal. The word myotonic is the adjectival form of the word myotonia, defined as an inability to relax muscles at will. Myotonic dystrophies dm are slowly progressing multisystemic disorders caused by. Image analysis was performed using imagej software. Another name used occasionally for this disorder is steinert disease. Noninvasive monitoring of alternative splicing outcomes. The myotonic dystrophy type 2 dm2 gene product zinc finger. Myotonic dystrophy refers to two rare genetic disorders of muscle that actually affect multiple systems of the body. Dm1 is caused by expansion of a ctg repeat in the 3. Acupuncture plus tcm helps muscular dystrophy patients.
To date two distinct forms caused by similar mutations have been identified. Dyken, earlyonset dystrophia myotonica evidence supporting a maternal environmental factor, the lancet, vol. Myotonic dystrophy dm is a clinically and genetically heterogeneous disorder. What is type 2 myotonic dystrophy dm2 type 2 myotonic dystrophy, also sometimes called promm proximal myotonic myopathy, is only found in adults, with an age of onset generally between 30 and 60 years. Myotonic dystrophy type 1 dm1 is caused by an expansion of a ctg repeat located in the 3. Myotonic dystrophies type 1 and 2 dm1 and dm2 are autosomal. Author links open overlay panel monika nojszewska a anna lusakowska a elzbieta szmidtsalkowska a malgorzata gawel a marta lipowska a anna sulek b wioletta krysa b marta rajkiewicz b andrzej seroka a katarzyna kaczmarek a. Dm2 is caused by a change or alteration in the nucleic acidbinding protein cnbp gene. Myotonic dystrophy type 1 md1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems e. Jan 21, 2010 an antisense compound for use in treating myotonic dystrophy dm1 or dm2, comprising an antisense oligonucleotide having 830 bases, with at least 8 contiguous bases being complementary to the polycug or polyccug repeats in the 3.
Myotonic dystrophy definition of myotonic dystrophy by. May, 2010 the myotonic dystrophy type 2 dm2 gene product zinc finger protein 9 znf9 is associated with sarcomeres and normally localized in dm2 patients muscles. Peripheral nerve involvement has been reported in dm1 but not in genetically confirmed dm2. There are two forms of myotonic dystrophy, usually referred to as type 1. The software matches the raw data in the table with the gene list for the. Utr region of dystrophia myotonica protein kinase dmpk mrna in dm1 or dm2, respectively, and conjugated to the. Myotonic dystrophy dm muscular dystrophy association. There are two forms of myotonic dystrophy, usually referred to as type 1 or dm1 and the rarer type 2 or dm2. Laboratory abnormalities in patients with myotonic dystrophy type 2. Apr 20, 2018 myotonic dystrophy type 1 md1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems e. The scientific name for myotonic dystrophy is dystrophia myotonica. People with this disorder often have prolonged muscle contractions myotonia and are not able to relax. Myotonic dystrophy type 2 dm2 dm2 almost exclusively develops in adults and is generally the milder of the two forms.
Pharmacological treatment for muscle weakness and wasting in. If rcts do not exist, the need for rcts and the most appropriate trial designs and outcomes will be considered in the discussion in. Myotonic dystrophy is an autosomal dominant disorder which is typically inherited from a persons parents. Myotonic dystrophy type 2 dm2 dm2 was previously named proximal myotonic myopathy or promm and shares many of the clinical and genetic features of dm1. Myotonic dystrophy, dm1 the medical biochemistry page. Dm2 is considered a clinically more benign disorder than dm1 11 and can be. Dm1 and dm2 cells displayed an increase in rna foci concomitant with. Myotonic dystrophy type 1 genetic and rare diseases. Myotonic dystrophy dm is the most common adultonset muscular dystrophy with an estimated prevalence of 18000. People with this disorder often have prolonged muscle contractions myotonia and are not able to. While myotonic dystrophy type 1 results from a ctg repeat expansion in the dystrophia myotonicaprotein kinase gene dmpk, a cctg repeat expansion in the zinc finger protein 9 gene znf9 has been identified in myotonic dystrophy type 2 brook et al. Although the specific function of this protein is unknown, it appears to play an important role in muscle, heart, and brain cells.
Myotonic dystrophy protein kinase dmpk and its role in. It is the most common form of adult muscle dystrophy, but the disease can present at any age and as early as birth. Dystrophia myotonica dm1 scandinavian consensus program page7 impaired cognitive function is the main reason for dm patients to have lower work capacity than the rest of the population. This protein may be involved in communication within cells. Peripheral nerve involvement in myotonic dystrophy type 2. Many patients also receive special education and speech and physical therapy. Dystrophy definition of dystrophy by merriamwebster. Myotonic dystrophy dm is a form of muscular dystrophy that affects muscles and many other organs in the body. Failure of mbnl1dependent postnatal splicing transitions. The identification of patients thought to be suffering from myotonic dystrophy but not harboring triplet expansions in the dmpk gene, led to the classification of the disorder as dystrophia myotonica 2 dm2, more commonly referred to as type 2 myotonic dystrophy mmd2. Both mutations are in noncoding sequences, raising. Myotonic dystrophy type 2 dm2 is caused by a cctgn intronic expansion in the zinc finger protein 9 znf9 gene.
Dystrophia myotonica article about dystrophia myotonica. Myotonic dystrophy dm is a multisystem disorder and the most common form of muscular dystrophy in adults. Myotonic dystrophy dm is the most common autosomal dominant muscular. These three forms of dm share similar medical management strategies.
Dystrophy is the degeneration of tissue, due to disease or malnutrition, most likely due to heredity. Individuals with dm2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Many children are also affected by the condition either at birth or later. Myotonic dystrophy type 1 dm1, steinerts disease was described more than 100 years ago and is caused by a ctgn expansion in dmpk, while myotonic dystrophy type 2 dm2 was identified only 18 years ago and is caused by a cctgn expansion in znf9cnbp. Myotonic dystrophy symptoms muscular dystrophy news. Dm1, for a century known as steinert disease dm2, recognized in 1994 as a milder version of dm1. Christopher project report to the myotonic dystrophy community. Pharmacological treatment for muscle weakness and wasting. As for dm1, sharing with dm2 a similar phenotype, the pathogenic.
Dystrophia myotonica definition of dystrophia myotonica. Myotonic dystrophy dm download our myotonic dystrophy dm fact sheet. The disorder is abbreviated dm, which is for dystrophia myotonia. Ijms free fulltext short tandem repeat expansions and. The dmpk gene provides instructions for making a protein called myotonic dystrophy protein kinase.
Presentation of symptoms and signs varies considerably by form dm1dm2, severity and even unusual dm2 phenotypes. Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. Myotonic dystrophy dystrophia myotonica dm is a slowly progressive multisystem genetic disorder that primarily affects skeletal muscles. Dystrophy any degenerative disorder resulting from improper or faulty nutrition dystrophy is the degeneration of tissue, due to disease or malnutrition, most likely. Myotonic dystrophy type 2 dm2 myotonic dystrophy support group. The term muscular dystrophy means progressive muscle degeneration, with weakness and shrinkage of the muscle tissue. Dm1 is caused by a change or alteration in the myotonic dystrophy protein kinase dmpk gene. Its also called dystrophia myotonica, a latin name, and therefore often abbreviated dm.
Myotonic dystrophy type 2 dm2 medizinisch genetisches. Myotonic dystrophy is often abbreviated as dm after its latin name dystrophia myotonica and is also known as steinerts disease. Acupuncture and traditional chinese medicine tcm improves patient outcomes for patients with duchenne muscular dystrophy dmd. There is, however, a distinct difference between the type that affects. Dm2 is an autosomal dominant genetic disorder which means that, on average, it is passed on to half of the children of an affected parent.
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