Myotonia myotonic dystrophy. Medical search. Frequent questions

Myotonia congenita is an inherited disorder causing muscle stiffness and hypertrophy beginning during childhood. (msdmanuals.com)
There are two forms of myotonia congenita, Thomsen disease and Becker disease, both of which involve the same gene, CLCN1 . (msdmanuals.com)
In children with myotonia congenita, there is delayed relaxation after muscle contraction, which can cause muscle stiffness. (msdmanuals.com)
Treatment of myotonia congenita is primarily symptomatic and supportive. (msdmanuals.com)
Myotonia is a symptom seen certain inherited muscle dystrophies and pure channelopathies (Dystrophia myotonica type 1 and 2, Myotonia Congenita , Paramyotonia Congenita , Hyperkalæmisk periodic paralysis and Potassium-Aggravated myotonia). (go.jp)
Thomsen's disease is also known as Myotonia Congenita, a muscular disorder with autosomal dominant inheritance. (klarity.health)
On the other hand, Becker's disease is another type of Myotonia Congenita caused by autosomal recessive inheritance. (klarity.health)
Unlike myotonia, where symptoms of muscle stiffness wear off when the muscle is exercised, paramyotonia congenita is when muscle stiffness is brought on upon exercising - the stiffness worsens as exercising is carried on. (klarity.health)

She is Chair of the Clinical Research Committee of the Muscular Dystrophy Surveillance Tracking and Research Network (MDSTARnet), a CDC funded project on Becker/Duchenne muscular dystrophy( 2004-present). (rochester.edu)
Becker muscular dystrophy is a neuromuscular condition that causes progressive weakness of the skeletal muscles and commonly affects the heart muscle, making cardiac problems a characteristic. (mdqld.org.au)

Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. (wikipedia.org)
DM causes muscle weakness, early onset of cataracts, and myotonia, which is delayed relaxation of muscles after contraction. (wikipedia.org)
Core clinical features are proximal muscle weakness, pain, myotonia and early-onset cataract. (ru.nl)
The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration in the voluntary muscles that control movement. (drweil.com)
Weakness in respiratory muscles can cause difficulties with breathing, and heart rhythm abnormalities can lead to repeated bouts of fatigue, dizziness, and fainting.Rarely, infants can have this form of MD, known as congenital myotonic dystrophy. (drweil.com)
Although they often do not exhibit myotonia (the inability to relax muscles after voluntarily contracting them), the infant form seems to be more severe with muscle weakness, respiratory abnormalities, difficulties with sucking and swallowing along with cognitive impairment. (drweil.com)
Myotonia Atrophica / Myotonic dystrophy is characterized by progressive multisystem genetic impairment in relaxation of muscles after voluntary contraction due to repetitive depolarization of the muscle membrane disorders muscle wasting and weakness. (rxharun.com)
Mild Myotonic Dystrophy - The mild form of DM1 or the oligosymptomatic form is associated with mild weakness, myotonia, and cataracts that begin between 20 to 70 years (typically after age 40 years). (rxharun.com)
[rx] Some physical examination findings include early-onset cataracts (younger than 50 years), varying grip myotonia, proximal muscle weakness or stiffness, hearing loss, and myofascial pain. (rxharun.com)
The cardinal features include muscle weakness, myotonia (slow muscle relaxation) and early cataracts. (designtx.com)
This condition causes multisystem problems, such as skeletal muscle weakness and myotonia (difficulty relaxing muscles), heart irregularities, cataracts, and other complications. (growthplusreports.com)
Myotonic dystrophy is characterized by progressive muscle wasting and weakness. (encyclopedia.pub)
These changes prevent muscle cells and cells in other tissues from functioning properly, leading to muscle weakness and the other features of myotonic dystrophy type 1. (encyclopedia.pub)
People with the classic features of myotonic dystrophy type 1, including muscle weakness and wasting beginning in adulthood, usually have between 100 and 1,000 CTG repeats in their cells. (encyclopedia.pub)
In common with other muscular dystrophies, it causes muscle wasting and weakness. (treat-nmd.org)
This multi-systemic/multi-organ involvement is a particular feature of myotonic dystrophy, and in some cases, the non-muscle-related features of the condition - especially the heart problems - can be more of an issue for patients than the muscle weakness or myotonia. (treat-nmd.org)
Adults who are moderately affected may have muscle weakness that gradually worsens with age, in addition to other symptoms such as excessive daytime fatigue, myotonia, diabetes, problems with breathing and swallowing, and sudden cardiac events. (treat-nmd.org)
Patients with non-dystrophic myotonia typically present with stiffness without weakness or muscle wasting, in contrast to dystrophic myotonic dystrophies (see Ch. 14 ). (musculoskeletalkey.com)

On Thursday, September 7th, over 130 Myotonic Dystrophy Foundation advocates from 23 US states and five other countries visited Congress on Capitol Hill in Washington, D.C. to ask for more federal research funding for myotonic dystrophy. (myotonic.org)

First described in 1902, distal muscular dystrophy is a class of muscular dystrophies that primarily affect distal muscles. (mdqld.org.au)

She has a clinical research interest in the best treatment of patients with Duchenne Muscular Dystrophy, the course and outcome of pregnancy in women with muscular dystrophies, and sleep disorders in neuromuscular diseases. (rochester.edu)
Neuromuscular disorders could cause myotonia and are best observed when there is a slowed relaxation or muscle unable to relax following a normal muscle contraction. (klarity.health)
Myotonic Dystrophy Type 1, also known as Steinert Disease and Type 2, a milder form of DM1, are multisystem disorders caused by autosomal dominant inheritance. (klarity.health)
Myopathies that could present in childhood include primary muscle disorders such as congenital myopathies, collagen type VI-related congenital muscular dystrophies or muscular dystrophies such as limb girdle muscular dystrophies (LGMD). (bmj.com)

Her current commitments include improving the diagnosis and treatment of adult and pediatric patients with neuromuscular diseases, especially Duchenne Muscular Dystrophy, myasthenia gravis, ALS, limb girdle muscular dystrophies, myotonic dystrophy, FSHD, and spinal muscular atrophy. (rochester.edu)
She has national and international expertise in conducting clinical trials in adult and pediatric neuromuscular diseases including Duchenne Muscular Dystrophy, Myasthenia Gravis, periodic paralyses, nondystrophic myotonias, myotonic dystrophy and FSHD. (rochester.edu)

WALTHAM, Mass., Sept. 20, 2023 (GLOBE NEWSWIRE) -- Dyne Therapeutics, Inc. (Nasdaq: DYN), a clinical-stage muscle disease company focused on advancing innovative life-transforming therapeutics for people living with genetically driven diseases, today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation for DYNE-101 for the treatment of myotonic dystrophy type 1 (DM1). (tmcnet.com)

Prior to her current appointment Dr. Bishop served as CSO at Tioga Pharmaceuticals, and Vice President of Clinical Development at Ionis Pharmaceuticals, where she provided drug development leadership to a portfolio of programs within the neurology franchise and led clinical stage development programs in Spinal Muscular Atrophy, Myotonic Dystrophy and Amyotrophic Lateral Sclerosis. (myotonic.org)

The repeats implicated in myotonic dystrophy are either 3 or 4 nucleotides in length, classified as microsatellites. (wikipedia.org)
Consultation with a neurologist suggested possible MD. Following genetic testing, type I MD with ~700-1,100 cytosine-thymine-guanine repeats in the dystrophia myotonia protein kinase gene was confirmed. (bvsalud.org)
Congenital Myotonic Dystrophy (CDM) - The congenital form presents in about 15% of cases, with fetal-onset involvement of muscle and the CNS, and typically is seen in those with more than 1,000 repeats. (rxharun.com)
His group solved the first atomic resolution structure of the CUG repeats that cause myotonic dystrophy and they have many publications on the mechanisms of splicing in the context of myotonic dystrophy. (myotonic.org)
People with myotonic dystrophy type 1 have from 50 to 1,000 CTG repeats in most cells. (encyclopedia.pub)
People born with the more severe, congenital form of myotonic dystrophy type 1 tend to have more than 1,000 CTG repeats in their cells. (encyclopedia.pub)
People with 35 to 49 CTG repeats do not develop myotonic dystrophy type 1, but their children are at risk of having the disorder if the number of CTG repeats increases. (encyclopedia.pub)

His clinical and research interests are in the field of multisystemic neuromuscular diseases, and metabolic and myotonic myopathies. (greenmarketreport.com)
A 57-year-old white American man presented with a long history of clinical and electrophysiological features of a myotonic disorder. (nih.gov)
DYNE-101 is an investigational therapeutic being evaluated in the Phase 1/2 global ACHIEVE clinical trial for people living with myotonic dystrophy type 1 (DM1). (tmcnet.com)
There are two major forms recognized based on clinical and molecular presentation: Myotonic dystrophy type I (DM1), known as Steinert disease, and myotonic dystrophy type II (DM2), or proximal myotonic myopathy which is a milder variety of DMI. (rxharun.com)
His previous work showed to the surprise of many that the clinical manifestations of myotonic dystrophy (DM) in men and women were different. (myotonic.org)
For instance, in December 2022, Arthrex Biotech S.A., a pre-clinical-stage biotechnology firm pioneering unique microRNA modifying approaches to diseases with significant unmet medical needs, reached major regulatory milestones in its program to develop ATX-01 in Myotonic Dystrophy Type 1 (DM1), clearing the way for the submission of an Investigational New Drug (IND) application in the United States and a Clinical Trial Application (CTA) in Europe. (growthplusreports.com)
The global myotonic dystrophy treatment market is expected to experience high revenue growth during the forecast period, owing to increase in the pipeline drugs being studied in clinical trials. (growthplusreports.com)
Most common clinical presentations of Myotonia present with few prominent symptoms. (klarity.health)

The term limb-girdle muscular dystrophy (LGMD) refers to a group of over 20 muscular dystrophies. (mdqld.org.au)

Her background as Principal Investigator for several national and international multi-center trials includes: Thymectomy in myasthenia gravis, Cell Cept in myasthenia gravis, Dichlorphenamide (DCP) in periodic paralyses, Mexiletine in myotonia congenital, and Ataluren (PTC124) in Duchenne muscular dystrophy. (rochester.edu)
Pivotal study to evaluate the efficacy and safety of riluzole versus mexiletine in patients with non dystrophic myotonia mutated in SCN4A orCLCN1 genes. (go.jp)
A randomized, double-blind, controlled, monocenter, pivotal phase IIb study to evaluate the efficacy and safety of riluzole versus mexiletine in patients with non dystrophic myotonia mutated in SCN4A or CLCN1 genes. (go.jp)
The Case of Mexiletine for Patients With Non- Dystrophic Myotonia. (go.jp)

People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. (rxharun.com)
Emery-Dreifuss muscular dystrophy is a genetic, degenerative disease primarily affecting the muscles used for movement. (mdqld.org.au)
In myotonic dystrophy, the muscles weaken and degenerate as the result of a hereditary disease. (ordoh.com)
Anna is the reason for this 5K walk called Muscles for Myotonic. (myotonic.org)
When there is dysfunction at the location where nerves and muscles connect, it is called neuromuscular junction dysfunction, which can cause myotonia. (klarity.health)

Mutations in the DMPK gene cause a form of myotonic dystrophy known as myotonic dystrophy type 1. (encyclopedia.pub)

Myotonic dystrophy affects about 1 in 2,100 people, a number that was long estimated to be much lower (often cited as 1 in 8,000), reflecting that not all patients have immediate symptoms and, once they do have symptoms, the long time it typically takes to get to the right diagnosis. (wikipedia.org)
Myotonic dystrophy type 2 is a multisystem disorder with both neurological and non-neurological signs and symptoms. (nih.gov)
What are the symptoms and forms of muscular dystrophy? (drweil.com)
Signs and symptoms vary according to the type of muscular dystrophy. (drweil.com)
Myotonic symptoms lessen with age but do not disappear, and they are most noticeable after a period of rest. (msdmanuals.com)
Membrane-stabilizing drugs may be used to decrease muscle stiffness and other symptoms associated with myotonia. (msdmanuals.com)
Symptoms of myotonic dystrophy mostly begin in childhood or the adult years. (growthplusreports.com)
In myotonic dystrophy type 1, the repetitive expansion grows with each aggrieved generation, typically causing an earlier start and worsening symptoms. (growthplusreports.com)
Myotonia describes symptoms experienced by individuals experiencing impaired muscle relaxation (prolonged contraction). (klarity.health)
However, it also affects many other systems in the body and symptoms can also include cataracts, heart conduction defects, endocrine changes including diabetes, and myotonia (prolonged muscle contractions or difficulty relaxing grip). (treat-nmd.org)
The genetic change that causes the symptoms of myotonic dystrophy is present at birth, but depending on its severity, myotonic dystrophy symptoms may become noticeable at almost any age. (treat-nmd.org)
Unlike some other forms of muscular dystrophy where infants may not achieve motor milestones, children with congenital myotonic dystrophy who overcome their initial breathing and feeding problems can make progress and often learn to walk, but as children they may have learning difficulties and other myotonic dystrophy symptoms. (treat-nmd.org)
They should have treatment for any of the particular symptoms they do have - for example heart problems or diabetes - from a doctor who understands that these symptoms are related to their myotonic dystrophy. (treat-nmd.org)

The patient group consists of patients suffering from non-dystrophic myotonia, and both types of myotonic dystrophies. (greenmarketreport.com)
There are two types of myotonia - dystrophic and non-dystrophic myotonia . (klarity.health)
Dystrophic myotonia includes Muscular Dystrophy or DM, "Dystrophia Myotonica" in Latin. (klarity.health)
Non-dystrophic myotonia is mainly caused by channelopathies (diseases of ion channel transport). (klarity.health)
Non-dystrophic myotonia is caused by channelopathies resulting from the dysfunction of ion channels in the membranes of all cells and many cellular organelles. (klarity.health)
These clinically fall into two broad groups: those with non-dystrophic myotonia or those with periodic paralysis. (musculoskeletalkey.com)

Myotonic dystrophy is caused by a genetic mutation in one of two genes. (wikipedia.org)
Myotonic dystrophy (DM) is a genetic condition that is inherited in an autosomal dominant pattern, meaning each child of an affected individual has a 50% chance of inheriting the disease. (wikipedia.org)
Genetic testing revealed that he had an expansion mutation in CCHC-type zinc finger, nucleic acid binding protein gene confirming the diagnosis of myotonic disorder type 2 and carried a mutation in the chloride voltage-gated channel 1 gene. (nih.gov)
The disclosure followed by two weeks the announcement by Dr. Housman and other researchers in the international group that they had linked a specific genetic defect to muscular dystrophy and made the surprising discovery that the genetic flaw can worsen with each generation. (mit.edu)
Each form of muscular dystrophy is caused by a genetic mutation that's particular to that type of the disease. (drweil.com)
The most common types of muscular dystrophy, like Duchenne's and Becker's appear to be due to a genetic mutation resulting in the absence or deficiency of dystrophin , a protein involved in maintaining the integrity of muscle. (drweil.com)
Fuchs Endothelial Corneal Dystrophy (FECD) is a genetic eye disease characterized by bilateral degeneration of corneal endothelial cells (CECs) and progressive loss of vision. (designtx.com)
According to Myotonic Dystrophy Foundation, myotonic dystrophy is a rare, multi-systemic genetic condition that impacts 1 in 2,100 individuals or more than 3.6 million people globally. (growthplusreports.com)
Myotonic dystrophy (DM), the most common adult-onset muscular dystrophy, is a genetic condition characterized by a wasting of skeletal muscle and heart defects, such as arrhythmia. (rna-seqblog.com)

Mutation of the DMPK gene causes myotonic dystrophy type 1 (DM1). (wikipedia.org)
We report a rare association between myotonic dystrophy type 2 and a seizure disorder. (nih.gov)
Myotonic dystrophy type 2 (DM2) is a rare, dominantly inherited, multisystem disorder, typically presenting in adult life. (ru.nl)
Avidity Biosciences Inc (NASDAQ: RNA) announced topline data from the Phase 1/2 MARINA trial of AOC 1001 for myotonic dystrophy type 1 (DM1). (yahoo.com)
Avidity Biosciences Inc (NASDAQ: RNA) stock is down over 16% Thursday following its decision to conclude the Phase 1/2 MARINA trial with the 38 participants enrolled at 1mg/kg, 2mg/kg, and 4mg/kg of AOC 1001 and not to move forward with the 8 mg/kg dose in myotonic dystrophy type 1 (DM1). (yahoo.com)
Myotonic dystrophy (DM) is considered a subgroup of myopathy and the most common type of muscular dystrophy that begins in adulthood. (rxharun.com)
Myotonic Dystrophy Type II - DM2 typically manifests in adulthood (median age 48 years) and has a variable presentation. (rxharun.com)
I have myotonic muscular dystrophy Type 2 and I've had it since birth, which a lot of people find unbelievable. (myotonic.org)
DM 1 is the most common myotonic dystrophy type. (growthplusreports.com)
Autistic traits in myotonic dystrophy type 1 due to MBNL inhibition and RNA mis-splicing. (ufl.edu)
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1. (ufl.edu)
Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy. (ufl.edu)
The type of mutation that causes myotonic dystrophy type 1 is known as a trinucleotide repeat expansion. (encyclopedia.pub)
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 or DM2. (treat-nmd.org)
Type 1 myotonic dystrophy is also sometimes called Steinert's Disease. (treat-nmd.org)

It is the most common form of muscular dystrophy that begins in adulthood. (wikipedia.org)
The gene for the most common adult form of muscular dystrophy has been isolated by an international team of geneticists, including several at MIT, whose work was published in the Feb. 21 issue of the journal Cell. (mit.edu)
DMD (Duchenne muscular dystrophy) is the most common form of muscular dystrophy. (mdqld.org.au)

Congenital myotonic dystrophy Myotonic dystrophy is rare, autosomal dominant muscle disorder. (msdmanuals.com)
Myotonic dystrophy (MD) is an autosomal dominant disorder primarily characterized by myotonia. (bvsalud.org)
Myotonic dystrophy is a complex multisystem disorder affecting many body organs. (growthplusreports.com)

Severe cases of myotonic dystrophy will be noticeable at birth, and babies with this "congenital" form may have breathing and swallowing problems and be quite severely ill, needing respiratory support and a feeding tube. (treat-nmd.org)

Muscular dystrophy is a general term for a group of inherited diseases involving defects in the genes responsible for normal muscle functioning. (drweil.com)

DM2, also known as PROMM (proximal myotonic myopathy), does not have a congenital start and rarely develops in childhood. (growthplusreports.com)

Myotonia refers to a neuromuscular condition in which the relaxation of a muscle is impaired, and can affect any muscle group of the body. (greenmarketreport.com)

Dyne has generated comprehensive preclinical data supporting its DM1 program, including reduction of nuclear foci and correction of splicing in patient cells, robust knockdown of toxic human nuclear DMPK RNA and correction of splicing in a novel in vivo model developed by Dyne, and reversal of myotonia in a disease model. (tmcnet.com)
The most prevalent form, DM1 myotonia dystrophy, is caused by an aberrant DNA expansion in the DMPK gene on chromosome 19. (growthplusreports.com)
DM1 Protein Kinase: The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. (encyclopedia.pub)

The Muscular Dystrophy Association (MDA), which funded much of the work, said the finding is a major step closer to early detection and the eventual treatment of myotonic dystrophy, which affects one in 7,000 to 8,000 people worldwide. (mit.edu)

Myotonic dystrophy (DM1) is a monogenic, autosomal dominant, progressive neuromuscular disease that affects skeletal muscle, heart, brain and other organs. (designtx.com)

The Berglund lab has identified several classes of small molecules that rescue the molecular disruptions caused by myotonic dystrophy. (myotonic.org)
Based on therapeutic class, the global myotonic dystrophy treatment market is segmented into molecular-based therapies and steroid therapy. (growthplusreports.com)
Researchers from the CNRS have discovered the molecular mechanisms responsible for the heart dysfunctions that mark myotonic dystrophy, and reported they appear to be linked to a defective processing of the cardiac sodium channel (SCN5A) RNA. (rna-seqblog.com)

Dr. Brook said the myotonic dystrophy gene is linked to the production of a protein that plays an important role in many different tissues in the body and an abnormality involving it could affect several organs. (mit.edu)
For example, myotonic dystrophy protein kinase has been shown to turn off (inhibit) part of a muscle protein called myosin phosphatase. (encyclopedia.pub)

There are two main types of myotonic dystrophy (DM), DM1 and DM2, both of which are brought on by chromosomal abnormalities. (growthplusreports.com)

Myotonia refers to delayed relaxation after muscle contraction, which can cause muscle stiffness. (msdmanuals.com)
Myotonia is a state of delayed relaxation, or sustained contraction, of skeletal muscle. (musculoskeletalkey.com)

Because a repeated effort is required to relax the muscle, individuals with myotonia may have significant trouble with normal daily activities, including releasing their grip on objects (i.e. knife, fork and spoon), and having difficulty rising from a seated position, or beginning to walk. (greenmarketreport.com)
A key attribute of DM is myotonia, difficulty relaxing a tightened muscle after use. (mdqld.org.au)
It may manifest after a voluntary muscle contraction, so-called active myotonia , and the patient may be aware of difficulty in relaxing the grip after grasping something. (musculoskeletalkey.com)

Myotonia is the primary initial symptom. (rxharun.com)
Long-lasting muscular spasms are a common symptom of this condition (myotonia). (ordoh.com)

Childhood Myotonic Dystrophy - The childhood (infantile) subset of DM1 typically presents around age 10. (rxharun.com)

The Myotonic Dystrophy Foundation Scientific Advisory Committee (SAC) is comprised of individuals who collectively have devoted more than 125 years to studying muscle diseases, specifically myotonic dystrophy. (myotonic.org)

Patients suffering from myotonia often walk with a stiff, slow, and awkward gait. (greenmarketreport.com)

Denver, Colorado, November 5, 2018 /AxisWire/ Nexien BioPharma Inc. (OTC QB: NXEN) ("Nexien" or the "Company") announced that it was initiating an investigation into the use of cannabinoid-based formulations for the treatment of patients suffering from Myotonic Dystrophy (DM) and Myotonia. (greenmarketreport.com)
Alex Wasyl, Chief Executive Officer stated, "There is significant anecdotal evidence reinforced by the patient questionnaire results that the use of cannabinoids provides relief to many myotonia and myotonic dystrophy patients. (greenmarketreport.com)
According to a new research , regular cycling might help patients with myotonic dystrophy (MD) maintain their mobility. (ordoh.com)
The findings of this study will surely encourage patients of myotonic dystrophy to cycle on a regular basis. (ordoh.com)

Anatomy6

Organisms1

Diseases20

Chemicals and Drugs10

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Phenomena and Processes13

Information Science2

Congenita8

Becker2

Weakness18

Research funding for myotonic d1

Distal1

Disorders4

FSHD2

20231

Spinal muscula1

Repeats7

Clinical8

LGMD1

Mexiletine4

Muscles5

Mutations1

Symptoms13

Dystrophic Myotonia6

Genetic9

Type15

Form of muscular dystrophy3

Disorder3

Congenital form1

Genes1

Proximal1

Neuromuscular condition1

DMPK3

Muscular Dystrophy A1

Affects1

Molecular3

Protein2

ABNORMALITIES1

Relaxation2

Difficulty3

Symptom2

Childhood1

Muscle diseases1

Gait1

Patients4