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Disease Profile
Myotonic dystrophy type 1
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
Antenatal
ICD-10
G71.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Dystrophia myotonica type 1; DM1; Steinert disease;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;
Summary
Myotonic dystrophy type 1 (MD1), one of the two types of myotonic dystrophy, is an
Symptoms
Compared to myotonic dystrophy type 2, MD1 is more severe and may affect lifespan.[2]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Cardiac conduction abnormality | 0031546 | |
Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
EMG: myotonic discharges | 0100284 | |
Excessive daytime somnolence |
Excessive daytime sleepiness
More than typical sleepiness during day
[ more ] |
0001262 |
Myotonia with warm-up phenomenon | 0003740 | |
Posterior subcapsular cataract | 0007787 | |
30%-79% of people have these symptoms | ||
Abnormal rapid eye movement sleep | 0002494 | |
Abnormality of masticatory muscle | 0410011 | |
Atrial fibrillation |
Quivering upper heart chambers resulting in irregular heartbeat
|
0005110 |
Fatigable weakness of bulbar muscles | 0030192 | |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Foot dorsiflexor weakness |
Foot drop
|
0009027 |
Hypersomnia |
Excessive sleepiness
|
0100786 |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Obstructive sleep apnea | 0002870 | |
Poor fine motor coordination | 0007010 | |
Prolonged PR interval | 0012248 | |
Prolonged QRS complex | 0006677 | |
5%-29% of people have these symptoms | ||
Abnormality of the cerebral white matter | 0002500 | |
Abnormality of the tongue muscle | 0040173 | |
Abnormality of thyroid physiology |
Abnormal thyroid function
|
0002926 |
Alopecia |
Hair loss
|
0001596 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Bilateral |
Drooping of both upper eyelids
|
0001488 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Cholelithiasis |
Gallstones
|
0001081 |
Constipation | 0002019 | |
Decreased fertility |
Abnormal fertility
|
0000144 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Decreased serum testosterone level |
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ] |
0040171 |
Depressivity |
Depression
|
0000716 |
0000819 | ||
Diaphragmatic weakness |
Weak diaphragm
|
0009113 |
Diarrhea |
Watery stool
|
0002014 |
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Difficulty articulating speech
|
0001260 | |
Early balding | 0002234 | |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Facial diplegia | 0001349 | |
Falls | 0002527 | |
Global |
0001263 | |
Handgrip myotonia | 0012899 | |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
Hypergonadotropic |
0000815 | |
Hyperinsulinemia | 0000842 | |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
Impaired visuospatial constructive cognition | 0010794 | |
Difficulty getting a full erection
Difficulty getting an erection
[ more ] |
0000802 | |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Mental retardation, borderline
|
0006889 | |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 |
Intestinal pseudo-obstruction | 0004389 | |
Left ventricular systolic dysfunction | 0025169 | |
Limited extraocular movements | 0007941 | |
Male hypogonadism |
Decreased function of male gonad
|
0000026 |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
Mild fetal ventriculomegaly | 0010952 | |
Mood changes |
Moody
|
0001575 |
Myotonia of the jaw | 0012901 | |
Myotonia of the upper limb | 0012903 | |
Nasogastric tube feeding in infancy | 0011470 | |
Neck flexor weakness
Cause MD1 is caused by a
The TreatmentThe resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Organizations Providing General Support
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
Selected Full-Text Journal Articles
References
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