MYOTONIC DYSTROPHY TYPE 1 (STEINERT’S DISEASE)
Myotonic Dystrophy Type I (Steinert’s Disease) Who can be affected by myotonic dystrophy? Myotonic dystrophy can affect people at any age The majority of people are diagnosed by the time they reach their early twenties With each generation, symptoms are more severe than the prior generation This is known as anticipation
:: Steinert myotonic dystrophy - Orphanet
Type I myotonic dystrophy, MD1, Steinert's disease Definition: Steinert myotonic dystrophy (MD) is the commonest form of muscular dystrophy in adults (affecting between 1/8 000 and 1/20 000 people in Europe) and exhibiting autosomal dominant transmission It is characterised by a
Facts About Myotonic Muscular Dystrophy
Myotonic muscular dystrophy often is known simply as myotonic dystrophy and occasionally is called Steinert disease, after the doctor who originally described the disorder in 1909 It’s also called by its Greek name dystrophia myotonica, and therefore sometimes is abbreviated “DM” rather than “MMD ”
Myotonic Dystrophy Type 1 (DM1) and Speech Problems
Myotonic Dystrophy Type 1 (DM1) and Speech Problems Lopes Cardoso I* and Baptista H Department of Health Sciences, Fernando Pessoa University, Portugal Abstract Myotonic Dystrophy type 1(DM1), also called Steinert syndrome, is a multisystemic disorder transmitted in an autosomal dominant manner, characterized by myotonia
The myotonic dystrophies: diagnosis and management
The myotonic dystrophies: diagnosis and management Chris Turner,1 David Hilton-Jones2 ABSTRACT There are currently two clinically and molecularly defined forms of myotonic dystrophy: (1) myotonic dystrophy type 1 (DM1), also known as ‘Steinert’s disease’; and (2) myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy
Myotonic Dystrophy Type 1 (DM1): From the Genetics to
(FA), diverse Spinocerebellar ataxias (SCA), and Myotonic dystrophy type 1 (DM1) In 1909, Hans Gustav Wilhelm Steinert, as well as Frederick Eustace Batten and H P Gibb, described for the first time a muscular dystrophy characterized by progressive muscle weakness and myotonia (involuntary muscle contraction and delayed relaxation due to
Myotonic Dystrophy Type 2: An Update on Clinical Aspects
DNA testing [11] Myotonic dystrophy of Steinert, the classic form of myotonic dystrophy that results from an unstable trinucleotide repeat expansion on chromo-some 19, is now termed myotonic dystrophy type 1 (DM1) Patients with the clinical picture of myotonic dystrophy type 2/proximal myotonic myopathy, who
Christopher Project Report to the Myotonic Dystrophy Community
minimal to severe There are two main types of the disease: myotonic dystrophy type 1 (DM1; also called Steinert’s Disease) and myotonic dystrophy type 2 (DM2; historically referred to as Proximal Myotonic Myopathy (PROMM)) Though similar in presentation, each type has a different genetic cause
PRACTICAL SUGGESTIONS FOR THE ANESTHETIC MANAGEMENT OF A
eyes, heart, endocrine, GI and pulmonary systems Two genetic forms of myotonic dystrophy have been identified: DM1 (Steinert disease) and DM2 (PROMM, proximal myotonic myopathy) 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)
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