關於 myotonic dystrophy ，我們在網路上蒐集到這些相關的討論、資訊與評價

#11. Myotonic Muscular Dystrophy - Johns Hopkins Medicine

Myotonic muscular dystrophy is a common multi-system disorder that affects the skeletal muscles (the muscles that move the limbs and trunk) as well as ...

#12. The myotonic dystrophies: diagnosis and management

There are currently two clinically and molecularly defined forms of myotonic dystrophy: (1) myotonic dystrophy type 1 (DM1), also known as 'Steinert's disease'; ...

#13. Myotonic dystrophy: Emerging mechanisms for DM1 and DM2

Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. Myotonic dystrophy type 1 (DM1) is caused by an expansion ...

#14. Core Clinical Phenotypes in Myotonic Dystrophies - Frontiers

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood.

#15. OMIM Entry - # 160900 - MYOTONIC DYSTROPHY 1; DM1

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG ...

#16. Overview Myotonic dystrophy

Myotonic dystrophy is a genetic condition that causes progressive muscle weakness and wasting. It typically affects muscles of movement and commonly the ...

#17. Pain in adult myotonic dystrophy type 1: relation to function ...

Myotonic Dystrophy type 1 (DM1) is an inherited neuromuscular disease caused by an unstable CTG nucleotide repeat [1,2,3]. In addition to ...

#18. Personality Patterns in Patients With Myotonic Dystrophy

Background Myotonic dystrophy (DM) is a multisystemic disease. The central nervous system is affected by cognitive, affective, and personality disturbances.

#19. Steinert myotonic dystrophy - Orphanet

Myotonic dystrophy type 1; Steinert disease. Prevalence: 1-5 / 10 000; Inheritance: Autosomal dominant; Age of onset: Antenatal, Infancy, Childhood, Adolescent ...

#20. Myotonic Dystrophy - Pediatrics - MSD Manuals

Myotonic dystrophy is rare and is autosomal dominant. Two types are recognized. Both affect voluntary muscles and one also affects involuntary muscles.

#21. Population frequency of myotonic dystrophy: higher than ...

Myotonic dystrophy is an autosomal dominant multi-systemic neuromuscular disorder. Two genetically distinct diseases with clinical similarities ...

#22. Clinical Care Recommendations for Cardiologists Treating ...

Abstract Myotonic dystrophy is an inherited systemic disorder affecting skeletal muscle and the heart. Genetic testing for myotonic ...

#23. Myotonic Dystrophy Type 2: An Update on Clinical Aspects ...

Myotonic dystrophies (DMs) represent a group of dominantly inherited, multisystemic diseases that share the core features of myotonia, muscle weakness, muscular ...

#24. Myotonic Dystrophy and Facioscapulohumeral Muscular ...

Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry. The safety and scientific validity of this study is the responsibility of the study ...

#25. Electrocardiographic Abnormalities and Sudden Death in ...

Myotonic dystrophy is an autosomal dominant disorder that is the most common muscular dystrophy presenting in adults. ... It is characterized by ...

#26. National Registry for Myotonic Dystrophy (DM ...

Help Us Advance Research. The National Registry advances research in myotonic dystrophy (DM) and FSHD by helping patients to participate in clinical studies ...

#27. Myotonic Dystrophy - TREAT-NMD

Myotonic dystrophy (often abbreviated as DM after its Latin name dystrophia myotonica) exists in two forms, usually referred to as type 1 or DM1 and type 2 ...

#28. Muscular dystrophy - NHS

myotonic dystrophy – a type of MD that can develop at any age; life expectancy isn't always affected, but people with a severe form of myotonic dystrophy may ...

#29. Myotonic Dystrophy (DM) | University of Iowa Hospitals & Clinics

Myotonic dystrophy (DM) is the most common form of muscular dystrophy that appears in adults. It is a genetic condition that can be challenging to manage, ...

#30. Myotonic dystrophy | Radiology Reference Article - Radiopaedia

Myotonic dystrophy refers to a group of progressive multi-system genetic disorders that affect primarily muscle function, ...

#31. Myotonic dystrophy - MyDr.com.au

Myotonic dystrophy is a muscle condition that falls under the umbrella term 'muscular dystrophy'. The muscular dystrophies all have three features in common ...

#32. Myotonic Dystophy - Muscular Dystrophy Association of New ...

Myotonic Dystrophy (DM) is a muscle weakening disorder which is inherited. It is abbreviated to DM because the Latin name for this condition is 'Dystrophia ...

#33. Genetic determinants of disease severity in the myotonic ...

Myotonic dystrophy type 1 (DM1) is a highly variable autosomal dominant inherited disorder affecting individuals of both sexes and all ages.

#34. Molecular Genetics and Genetic Testing in Myotonic ... - Hindawi

Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical ...

#35. Myotonic Muscular Dystrophy | Kennedy Krieger Institute

Symptoms of myotonic dystrophy might include difficulty releasing one's grip (myotonia), weakness of muscles in the hands and feet, difficulty swallowing, ...

#36. myotonic dystrophy | pathology | Britannica

Myotonic dystrophy is characterized by weakness and wasting of the face and trunk muscles. In addition, muscles fail to relax after a strong contraction, so ...

#37. How is Myotonic Dystrophy inherited?

Myotonic Dystrophy is a genetic disease and so can be inherited by the child of an affected parent if they receive the mutation in the DNA from the parent.

#38. Myotonic Dystrophy | American Association of Neuromuscular ...

Myotonic dystrophy is a disorder that causes muscle wasting, trouble relaxing after movement, and weakness. Early signs are muscle weakness in the face, hands, ...

#39. Cardiac disease in myotonic dystrophy

Classical myotonic dystrophy has its onset between 10 and 60 years, presenting with: myotonia; muscle weakness in a classical distribution of facial, temporalis ...

#40. Myotonic Dystrophies: Targeting Therapies for Multisystem ...

Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also ...

#41. Myotonic dystrophy: diagnosis, management and new therapies

Myotonic dystrophies type 1 and type 2 are progressive multisystem genetic disorders with clinical and genetic features in common. Myotonic dystrophy type 1 ...

#42. Myotonic dystrophy Definition & Meaning - Merriam-Webster

The meaning of myotonic dystrophy is a muscular disorder that is characterized by dystrophic muscle weakness and myotonia affecting multiple bodily systems ...

#43. Diabetes in Myotonic Dystrophy - FullText

Unlike most other muscular dystrophies, myotonic dystrophies affect a great variety of other organs than muscle. Progressive wasting and ...

#44. SSA - POMS: DI 23022.143 - Congenital Myotonic Dystrophy

Congenital Myotonic Dystrophy (type 1) is the most severe form of myotonic dystrophy, a rare, inherited neurlogical disorder caused by a ...

#45. Myotonic Dystrophy Test | VCGS

Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system and central ...

#46. Myotonic syndromes - Knowledge @ AMBOSS

Myotonic dystrophy type I (DM1,. Curschmann-Steinert. disease). Myotonic dystrophy type II (DM2, proximal myotonic myopathy) ...

#47. Medical Definition of Myotonic dystrophy - RxList

Myotonic dystrophy : An inherited disease in which the muscles contract but have decreasing power to relax -- this phenomenon is termed myotonia ...

#48. Myotonic Dystrophy | Pediatric Orthopaedic Society of North ...

Myotonic dystrophies (dystrophia myotonica, DM) are a set of diseases that are inherited in an autosomal dominant pattern and can affect multiple organ ...

#49. Ocular Manifestations of Myotonic Dystrophy - EyeWiki

Myotonic Dystrophy is a multi-system disease, which can initially present with symptoms of ptosis, ophthalmoplegia, extraocular myotonia, ...

#50. Myotonic Dystrophy

The condition is progressive, so symptoms of muscle stiffness and weakness tend to worsen over time. People with myotonic dystrophy typically experience ...

#51. Gender as a Modifying Factor Influencing Myotonic Dystrophy ...

Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, ...

#52. Myotonic Dystrophy < Neurology

Myotonic dystrophy is an inherited disorder of muscle weakness and wasting characterized by sustained, involuntary muscle contractions. These involuntary.

#53. Myotonic Dystrophy: - University of Washington

Myotonic dystrophy is an inherited disorder of muscle function. It is characterized by muscle weakness and myotonia (slow relaxation of muscles after ...

#54. Myotonic Muscular Dystrophy - Nationwide Children's Hospital

Myotonic muscular dystrophy, also known as MMD or Steinert's disease, is the most common form of MD in adults. It occurs in 1/30,000 people.

#55. Congenital Myotonic Dystrophy – PM&R KnowledgeNow

Congenital myotonic dystrophy is the most severe form of myotonic dystrophy type 1 (DM1, aka Steinert disease), an autosomal dominant ...

#56. Myotonic Dystrophy Center | University at Albany

Part of the RNA Institute's myotonic dystrophy research team are, left to right, research scientist Kaalak Reddy, collaborative staff scientist John Cleary, ...

#57. Living with Myotonic Dystrophy | MD Australia

Nerida is only physically affected by Myotonic Dystrophy. Both her sons, Marcus and James were diagnosed with Myotonic Dystrophy. She was too ...

#58. Myotonic dystrophy - Pathology Outlines

Myotonic dystrophy · Autosomal dominant (AD) muscular dystrophy caused by expansions of different nucleotide repeats which affect RNA splicing ...

#59. Myotonic Muscular Dystrophy: Symptoms, Causes, Diagnosis

Myotonic muscular dystrophy causes weakness of the skeletal muscles and the internal organs including the heart, the muscles that power ...

#60. Myotonic Dystrophy and Cancer Susceptibility

Myotonic Dystrophy (dystrophia myotonica - DM) is a slowly progressive multi-system genetic disorder that primarily affects skeletal muscles.

#61. Myotonic Dystrophy and Heart Disease. Behavior of ... - SciELO

events and conduction disturbances in myotonic dystrophy; to corre- late the genetic defect with cardiovascular findings; to assess cardiac.

#62. Myotonic Dystrophy Type 1 (DMPK) | Test Fact Sheet - ARUP ...

Myotonic dystrophy type 1 (DM1) is an inherited genetic disorder caused by an expanded number of CTG​ repeats in the DMPK gene. Disease onset and severity ...

#63. Myotonic dystrophy (MD) | MedLink Neurology

Myotonic dystrophies represent a group of dominantly inherited, multisystem (eye, heart, brain, endocrine, gastrointestinal tract, uterus, skin) diseases that ...

#64. The myotonic dystrophies: molecular, clinical, and therapeutic ...

Myotonic dystrophy is the most common type of muscular dystrophy in adults and is characterised by progressive myopathy, myotonia, ...

#65. Congenital Myotonic Dystrophy - AMO-pharma.com

It is caused by a mutation in the DMPK gene. Congenital myotonic dystrophy symptoms include muscle weakness and intellectual, sleepiness and developmental ...

#66. Myotonic Muscular Dystrophy - Seattle Children's

Myotonic muscular dystrophy (MMD) causes weakness, shrinking muscles and slow release of some muscles after they contract (myotonia).

#67. Types of Muscular Dystrophy | NYU Langone Health

As myotonic muscular dystrophy progresses, it can cause an abnormal heart rhythm or weakened heartbeat. Cardiac involvement can become so severe that some ...

#68. Myotonic Dystrophy

Myotonic Dystrophy or dystrophia myotonica (DM) is a genetic disease characterized by progressive muscle degeneration. DM is divided into two types: type 1 ...

#69. Myotonic Dystrophy: From Molecular Pathogenesis to ... - MDPI

Myotonic dystrophies (DM) type 1 and type 2 are complex genetic diseases affecting many tissues, including the skeletal muscle, heart and brain. DM1 and DM2 are ...

#70. Scientists edge closer to treatment for myotonic dystrophy

Myotonic dystrophy is a long-term genetic disorder that affects muscle function. It is the most common form of muscular dystrophy in adults ...

#71. Myotonic Dystrophy Article - StatPearls

Myotonic dystrophy is a rare progressive disorder that universally presents with weakness. In addition to musculoskeletal weakness, ...

#72. Myotonic Dystrophy - Conditions - Neurological - What We Treat

Myotonic dystrophy is an inherited neurological condition that causes progressive muscle weakness, muscle spasm, cataracts, cardiac abnormalities and endocrine ...

#73. Myotonic dystrophy | Osmosis

With myotonic dystrophy, “myo” means muscle, “tonic” means spasm, “dys” means bad, and “troph” means nourish; so myotonic dystrophy refers to the muscle ...

#74. Myotonic Dystrophy (MDA) Clinic | Houston Methodist

The Myotonic Dystrophy Clinic addresses and minimizes aspects of myotonic dystrophy. Learn more about the MDA clinic at Houston Methodist.

#75. Pediatric Myotonic Dystrophy - Children's Health

Myotonic dystrophy is a rare condition that can cause weakness in the muscles and other parts of the body. Often it causes weakness in the face, neck, arms and ...

#76. Living with Muscular Dystrophy | CDC

Both Paul and Carly had symptoms of myotonic dystrophy for years before they received their diagnoses. Myotonic dystrophy is one of the most common types of ...

#77. Myotonic Dystrophy - What You Need to Know - Drugs.com

Myotonic dystrophy is an inherited disease that leads to muscle weakness and loss. Myotonic dystrophy causes your muscles to become stiff when you use them.

#78. Myotonic Dystrophy - Cancer Therapy Advisor

Clinical features and incidence. Myotonic dystrophy (dystrophia myotonia, commonly abbreviated DM) is an inherited disorder affecting multiple organ systems.

#79. Myotonic Dystrophy Type 1 (DMPK) CTG Expansion

Diagnose myotonic dystrophy type 1 (DM1) in symptomatic individuals. Screen for DM1 for adults with a family history.

#80. Myotonic Dystrophy Type 1 - American Journal of ...

Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multisystem disorder associated with an unstable triplet repeat of the DMPK gene.

#81. Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in ...

Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 ...

#82. Myotonic dystrophy - Royal College of Physicians of Edinburgh

Classical myotonic dystrophy patients have muscle weakness, myotonia, and a range of other symptoms, in early to mid adult life; congenital.

#83. Myotonic dystrophy 1 (DM1) | Share4Rare

Age of onset (and severity of symptoms) determine the different types of DM1. Please note that the classifications below are currently under ...

#84. Myotonic Dystrophy: Sum and Substance - Austin Publishing ...

Myotonic Dystrophy (DM) is a chronic, slowly progressing, highly variable, inherited multisystem autosomal-dominant disease characterized by marked ...

#85. Myotonic dystrophy - VisualDx

Classic Type 1 Myotonic dystrophy is an autosomal dominant, inherited, progressive disorder affecting the muscles. The disorder is characterized ...

#86. Myotonic Muscular Dystrophy (DM) - The Loop community

Myotonic Dystrophy (DM), sometimes called Steinert's Disease, is the most common form of adult muscular dystrophy (a group of diseases that cause your ...

#87. DM1 - Expansion Therapeutics

Myotonic Dystrophy is a Multi-Organ Disease Mediated by Abnormalities in the RNA of a Key Gene. The Expansion Therapeutics Difference ...

#88. Image of the Month: What causes myotonic dystrophy, type1

Myotonic dystrophy, type 1 (DM1) is the second most common cause of muscular dystrophy and numerous other muscle disorders that affect tens ...

#89. of the clinical features of myotonic dystrophy type 2 as ...

Myotonic dystrophy is an inherited systemic disorder affecting skeletal muscle and the heart. Genetic testing for myotonic dystrophy is diagnostic and ...

#90. Skin features in myotonic dystrophy type 1: An observational ...

Introduction. Myotonic Dystrophy or Dystrophia Myotonica type 1 (DM1) is the most frequent muscular dystrophy in adults, with an incidence of ...

#91. 13 Myotonic dystrophy ideas - Pinterest

Jun 29, 2020 - Explore Dodie Presley's board "myotonic dystrophy", followed by 1379 ... See more ideas about myotonic dystrophy, muscular dystrophies, ...

#92. General Information on DM1 - Richard Weston's Myotonic ...

This site aggregates and publishes all information on Myotonic Dystrophy Myotonic Dystrophy is a disease that is genetically based and inherited ...

#93. Levator palpebrae superioris muscle advancement for steinert ...

Myotonic Dystrophy Type 1 (DM1), also known as Steinert Myotonic Distrophy, is a rare systemic disease, involving multiple organs and affecting ...

#94. Shank sign in myotonic dystrophy type-1 (DM-1) - Journal of ...

Apart from various systemic manifestations, the muscle involvement in myotonic dystrophy has two important components – myotonia and muscle wasting. The ...

#95. Myotonic Muscular Dystrophy - JAPI

Myotonic Muscular Dystrophy ... CTG) repeat sequence in the 3'untranslated region of the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q.