Myotonic Muscular Dystrophy Type 1
Overview
Individuals with mild late adult onset may not develop symptoms until after 50 years old. [Ho: 2015] Classic "adult" onset often occurs after age 10 and involves progressive muscle weakness (often eventually requiring a wheelchair for mobility), cataracts, and cardiac conduction abnormalities. Children with childhood onset (before the age of 10, but after early infancy) often have similar symptoms and disease progression as those with congenital onset. Infants with congenital onset may present at birth with hypotonia, breathing or feeding problems, and drooling and/or swallowing problems. Global developmental delays are often observed in the first few years of life. Distal muscle atrophy and weakness, as well as the hallmark myotonia, may not be noted until school age or later. IQ may be borderline or low, learning disabilities may be present, and attention deficit hyperactivity disorder or characteristics of autism spectrum disorder are common. Management is currently supportive, incorporating regular surveillance and treatment of manifestations.
Other Names & Coding
G71.11, Myotonic muscular dystrophy
See ICD-10 for Myotonic Muscular Dystrophy (icd10data.com) for further coding details.
Prevalence
Genetics
MMD is inherited in an autosomal dominant fashion. The disease-causing allele found in a parent with MMD may lengthen during the process of gametogenesis and the resulting offspring may have more severe disease and earlier onset than seen in the parent. This phenomenon is called anticipation. Anticipation resulting in large expansions (>1000 repeats), and hence congenital MMD, is much more common when the mother is the affected parent; anticipation with smaller or moderate expansions can occur from either parent. [Pratte: 2015] Myotonic Dystrophy Type 1 (GeneReviews) has further details related to genetics. [Bird: 1993]
Prognosis
Practice Guidelines
No authors listed.
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Neurology.
2020;94(9):414.
PubMed abstract
Johnson NE, Aldana EZ, Angeard N, Ashizawa T, Berggren KN, Marini-Bettolo C, Duong T, Ekström AB, Sansone V, Tian C, Hellerstein
L, Campbell C.
Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1.
Neurol Clin Pract.
2019;9(5):443-454.
PubMed abstract / Full Text
Roles of the Medical Home
In addition, the medical home treats acute illness and performs well-child and chronic-care visits where progression of the condition and problems can be proactively managed. The medical home, with input from the family, should be the initiator and coordinator of visits to subspecialists unless a multidisciplinary Neuromuscular Clinic (see Neuromuscular Clinics (see NM providers [1])) is available. The goal is to avoid duplication of services or unnecessary appointments while still seeing the subspecialists needed. All screening and interventions are intended to promote growth and potential development, mitigate cumulative morbidities, optimize function, and limit mortality while maximizing quality of life. [Kang: 2015]
Clinical Assessment
Overview
Pearls & Alerts for Assessment
MMD may present as global developmental delayIn a child with an uneventful birth, early MMD may present as global developmental delay. The characteristic myotonia is not present until later in childhood and the typical facial features may not be obvious unless the provider is aware of the potential for this underlying diagnosis in a child with developmental delays.
Complications with anesthesiaIndividuals with MMD, even those with only mild manifestations of the disease, have a higher rate of complications associated with general anesthesia. Families should be educated about this possibility and reminded of this during well-child visits. [Mangla: 2019].
Incidence of diabetesIndividuals with MMD may have insulin resistance that sometimes develops into diabetes, even in the absence of obesity.
Screening
Of Family Members
For Complications
MMD causes electrical problems in the heart, such as arrhythmias, atrial fibrillation, and conduction defects (less commonly cardiac muscle problems). Screen for cardiac problems yearly with an ECG at the minimum.
Screen for sensorineural hearing loss, which is present in more than half of individuals with DMD.
Children should have a sleep study at diagnosis or when new symptoms of daytime sleepiness occur to screen for sleep apnea. Sleep and fatigue are often reported as the most debilitating symptoms of MMD.
Presentations
Congenital/severe presentations: Babies with congenital MMD may be identified at birth with severe hypotonia, positional problems such as clubfeet or hip dysplasia, and breathing or swallowing problems. The latter 2 issues may be severe enough to require ventilation or tube feeding, sometimes for prolonged periods of time. Global developmental delays are often observed in the first few years of life. Distal muscle atrophy and weakness, as well as the hallmark myotonia, may not be noted until school age or later. IQ may be borderline or low, learning disabilities may be present, and attention deficit hyperactivity disorder or characteristics of autism spectrum disorder are common.
Diagnostic Criteria
Clinical Classification
- MMD1, the most common type, results from an abnormal DNA expansion (CTG) in the DMPK gene on chromosome 19 causing mis-splicing of mRNAs, affecting all organs of the body.
- MMD2 arises from an abnormal expansion of DNA (CCTG) in the first intron of CNBP (cellular nucleic acid binding protein). Note that unlike MMD1, where the number of repeats is roughly correlated with the severity of the disease, there is no correlation between phenotype and repeat length.
Differential Diagnosis
Because of the intellectual disability associated with MMD, diseases of the central nervous system may also be considered. Metabolic testing is normal in myotonic dystrophy. Although brain MRI is usually normal in individuals with MMD, it may show periventricular myelin changes that could be interpreted as evidence of perinatal hypoxic/ischemic injury. [Modoni: 2004] [Peglar: 2019]
Comorbid & Secondary Conditions
History & Examination
Current & Past Medical History
Family History
Pregnancy/Perinatal History
Developmental & Educational Progress
Social & Family Functioning
Physical Exam
Growth Parameters
Ht | Wt - Children with MMD often have difficulty gaining and maintaining weight. Stature is typically normal in children with MMD.
HEENT/Oral
Children with congenital MMD have facial muscle weakness that can cause a seemingly flattened affect, an upper lip that comes to a point (known as a tented upper lip), and a characteristically long face with hollowing at the temples. Ptosis may be present. Check for drooling, swallowing dysfunction, and cataracts. A high-arched palate may be noted. Adolescent males may have early balding at the temples.
Testing
Sensory Testing
Laboratory Testing
Genetic Testing
Other Testing
- Children with MMD require an ECG yearly to screen for progressive arrhythmias. Any detection of an early arrhythmia, most commonly first-degree heart block requires an urgent evaluation by a cardiologist.
- Consider a barium swallow study for symptoms of dysphagia or frequent pulmonary infections that may be due to silent aspiration.
- Perform a complete, age-appropriate, evaluation in all children. Initiate developmental therapies based on delays. Intellectual disability and other psychological symptoms are seen in more than half of children with congenital MMD. A neuropsychological profile may be helpful.
Specialty Collaborations & Other Services
Neuromuscular Clinics (see NM providers [1])
Pediatric Neurology (see NM providers [5])
Medical Genetics (see NM providers [2])
Pediatric Physical Medicine & Rehabilitation (see NM providers [3])
Treatment & Management
Overview
Knockdown of the toxic repeat expansion may be possible using antisense oligonucleotides. There has been a prior clinical trial (NCT02312011) testing this approach. We would expect others will continue to improve on this approach in the near future. Gene therapy for myotonic dystrophy is likely still years away, but adeno-associated viral vector gene therapy is currently being worked on in the laboratory. [Crudele: 2019]
Pearls & Alerts for Treatment & Management
Complications with vecuronium and general anesthesiaChildren and adults with MMD are very slow to regain airway protection reflexes after anesthesia. If surgery is needed in a child with MMD, the anesthesiologist should be made aware of possible anesthetic complications.
Avoid statinsStatins may lead to increasing muscle weakness and pain.
Assess cardiac symptoms immediatelyAny symptoms suggestive of cardiac arrhythmia (e.g., chest pain with exertion, light-headedness, or palpitations) should be taken seriously.
Botox may cause worsening in targeted muscle groupsAvoid using neuromuscular blocking agents (e.g., botulinum toxin) in patients with MMD unless the contractures are determined to cause significantly greater impairment than would any potential worsening of weakness in the targeted muscle groups. [Kang: 2015]
FatigueParents of congenitally affected children from the United States and Canada report fatigue as an important problem for their children. Clinically, this is observed as older children who still need naps to function well. When fatigue or daytime sleepiness are present, consider a sleep study for obstructive or central sleep apnea. School accommodations may be necessary for children with fatigue. [Johnson: 2015]
How should common problems be managed differently in children with Myotonic Muscular Dystrophy Type 1?
Bacterial Infections
Prescription Medications
Systems
Musculoskeletal
Specialty Collaborations & Other Services
Pediatric Neurology (see NM providers [5])
Neuromuscular Clinics (see NM providers [1])
Physical Therapy (see NM providers [12])
Development (general)
Specialty Collaborations & Other Services
Early Intervention for Children with Disabilities/Delays (see NM providers [34])
Preschools (see NM providers [6])
Occupational Therapy (see NM providers [17])
Pediatric Neurology (see NM providers [5])
Mobility/Function/ADLs/Adaptive
Specialty Collaborations & Other Services
Pediatric Physical Medicine & Rehabilitation (see NM providers [3])
Pediatric Orthopedics (see NM providers [7])
Physical Therapy (see NM providers [12])
Occupational Therapy (see NM providers [17])
Sleep
Sleep apnea (either central or obstructive), excessive leg movements, and dysregulation of rapid eye movement sleep may also contribute to fatigue in some children. If sleepiness, restless legs, or breathing abnormalities during sleep continue, consider referring to a sleep specialist. In more severe cases, stimulant medication or modafinil (Provigil) may be helpful. In younger children, a behavioral approach may help; the family should control bedtime and wake-up time and plan for scheduled naps. Consider suggesting a disability placard for the family's car to help with conserving the child's energy while out of the house; even if the child is only going to run around at a park, the child should conserve energy to get to the play area.
Specialty Collaborations & Other Services
Sleep Disorders (see NM providers [0])
Cardiology
Specialty Collaborations & Other Services
Pediatric Cardiology (see NM providers [3])
Respiratory
Specialty Collaborations & Other Services
Pediatric Pulmonology (see NM providers [4])
Communication
Specialty Collaborations & Other Services
Speech - Language Pathologists (see NM providers [23])
Gastro-Intestinal & Bowel Function
Constipation/diarrhea: Most children with MMD experience constipation alternating with diarrhea. Constipation and diarrhea are easier to treat if caught early; bowel history should be part of every medical home visit. Dietary management with additions of fiber might be all that is necessary, but many children will need daily treatment with laxatives (PEG 3350, MiraLax, or GlycoLax). See the Portal's Constipation for treatment details.
Incontinence: Children may have prolonged urinary and fecal incontinence. A high-fiber diet may be helpful in reducing fecal urgency. If incontinence persists into the teenage years, a trial of anti-myotonia medication may be helpful.
Specialty Collaborations & Other Services
Pediatric Gastroenterology (see NM providers [2])
Nose/Throat/Mouth/Swallowing
Children with significant swallowing problems may need gastrostomy tube placement to allow efficient and safe liquid and/or food delivery. A gastrostomy tube may also be necessary for those children with severe failure to thrive, even if aspiration is not an obvious problem. In some children, placement of a feeding tube might be thought of as a temporary intervention so that the family may focus on the child and the quality of his or her eating without worrying constantly about the number of calories the child has received. In the child with gastroesophageal reflux disease and limited capacity to protect his or her airway, treatment with a Nissen fundoplication may be important. See Feeding Tubes & Gastrostomies in Children and Missing issue with id: 435a721.xml for more information.
Drooling: Many parents choose not to treat drooling due to concerns about the side effects of medication and surgery, but drooling in the socially aware older child can be very embarrassing and can create social barriers. Treatment possibilities include medications to decrease saliva, botulinum toxin treatments (temporary), or surgery to block salivary ducts. No known therapy helps oropharyngeal function. [Morgan: 2012] See Drooling in Children with Special Health Care Needs for resources and information about specific treatments.
Specialty Collaborations & Other Services
Pediatric Gastroenterology (see NM providers [2])
Pediatric Otolaryngology (ENT) (see NM providers [11])
Speech - Language Pathologists (see NM providers [23])
Nutrition/Growth/Bone
Specialty Collaborations & Other Services
Dieticians and Nutritionists (see NM providers [1])
Maturation/Sexual/Reproductive
Females with MMD should understand that their child has a 50/50 risk of being born with congenital MMD in a more severe form than the mother exhibits. Pregnancies of mothers with congenital MMD should be managed by a high-risk obstetrician, usually with birth planned for a tertiary care NICU. Labor may be prolonged, with increased risk of retained placenta and hemorrhage. The woman may have polyhydramnios, and she may note that fetal movements are decreased.
Specialty Collaborations & Other Services
Medical Genetics (see NM providers [2])
Endocrine/Metabolism
Mental Health/Behavior
Specialty Collaborations & Other Services
Therapy/Counseling > … (see NM providers [90])
Developmental - Behavioral Pediatrics (see NM providers [2])
Recreation & Leisure
Specialty Collaborations & Other Services
Physical Therapy (see NM providers [12])
Rec Centers, Parks, Zoos & Museums (see NM providers [10])
Eyes/Vision
Specialty Collaborations & Other Services
Pediatric Ophthalmology (see NM providers [6])
Dental
Specialty Collaborations & Other Services
Pediatric Dentistry (see NM providers [6])
General Dentistry (see NM providers [12])
Surgery
Transitions
If necessary, apply for guardianship when the child turns 18. The often lengthy process usually includes psychological and medical evaluations and the involvement of a lawyer. At age 18, children in some states may become eligible for Medicaid or may qualify for resources with the Division of Services for People with Disabilities (DSPD) even if they were previously ineligible based on family income. Families may want to read Guardianship/Estate Planning for more information. Also, the Portal's Transition to Adulthood contains resources, checklists, and information about finding adult health care and insurance, guardianship and estate planning, living arrangements, and much more.
Ask the Specialist
How would you treat pain in children with MMD?
Often, pain is actually myotonia. Rather than traditional pain medications, consider trying anti-myotonia medications.
Do I need to do anything special before my patient has surgery?
Yes. A number of complications are associated with myotonic dystrophy and surgery. Please see the anesthesia guidelines available at Anesthesia & Myotonic Dystrophy - Risks & Recommendations (MDF).
My patient has significant diarrhea and constipation. What should I do?
The first line of treatment is a high-fiber diet for either diarrhea or constipation. Constipation may be refractory and require other laxatives.
Resources for Clinicians
On the Web
Myotonic Dystrophy Type 1 (GeneReviews)
Detailed information addressing clinical characteristics, diagnosis/testing, management, genetic counseling, and molecular
pathogenesis; from the University of Washington and the National Library of Medicine.
Myotonic Dystrophy (OMIM)
Information about clinical features, diagnosis, management, and molecular and population genetics; Online Mendelian Inheritance
in Man, authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Learning about Myotonic Dystrophy (genome.gov)
Condition-specific information focused on the future of genomics research and genomic medicine; National Human Genome Research
Institute.
Myotonic Muscular Dystrophy Type 1 (Orphanet)
Overview of MMD1 (aka Steinert myotonic dystrophy) and links to more information, services, and other resources; from Orphanet,
a French-coordinated consortium involving over 40 countries to provide a portal for information about rare diseases and orphan
drugs.
Myotonic Muscular Dystrophy Type 2 (Orphanet)
Overview of MMD2 (aka proximal myotonic myopathy) and links to more information, services, and other resources; from Orphanet,
a French-coordinated consortium involving over 40 countries to provide a portal for information about rare diseases and orphan
drugs.
Helpful Articles
PubMed search for myotonic muscular dystrophy in children and adolescents, last 3 years
Johnson NE.
Myotonic Muscular Dystrophies.
Continuum (Minneap Minn).
2019;25(6):1682-1695.
PubMed abstract
Johnson NE, Ekstrom AB, Campbell C, Hung M, Adams HR, Chen W, Luebbe E, Hilbert J, Moxley RT 3rd, Heatwole CR.
Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.
Dev Med Child Neurol.
2015.
PubMed abstract / Full Text
Johnson NE, Abbott D, Cannon-Albright LA.
Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis.
Muscle Nerve.
2015;52(4):659-61.
PubMed abstract / Full Text
Ho G, Cardamone M, Farrar M.
Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.
World J Clin Pediatr.
2015;4(4):66-80.
PubMed abstract / Full Text
Ho G, Carey KA, Cardamone M, Farrar MA.
Myotonic dystrophy type 1: clinical manifestations in children and adolescents.
Arch Dis Child.
2018.
PubMed abstract
Clinical Tools
Resources for Patients & Families
Myotonic Muscular Dystrophy (FAQ)
Answers to the common questions that parents may have about this condition. Provides links to other relevant high-quality
websites.
Information on the Web
Myotonic Dystrophy (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources;
from the National Library of Medicine.
Facts about Myotonic Muscular Dystrophy (MDA)
Excellent overview of myotonic muscular dystrophy written for the family and patient; Muscular Dystrophy Association.
National & Local Support
Myotonic Dystrophy Support Group (MDSG)
This support organization offers information about myotonic dystrophy, events, research, and more.
Myotonic Dystrophy Foundation
A non-profit that provides adaptive equipment and emotional support to individuals and families affected by any of the neuromuscular
diseases.
Muscular Dystrophy Association
The Muscular Dystrophy Association (MDA) covers many conditions including CMT, Duchenne muscular dystrophy, and spinal muscular
atrophy. More information about these conditions, how to register, and clinic locations can be found here.
Studies/Registries
Clinical Trials in Myotonic type 1 (clinicaltrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.
National Registry of Myotonic Dystrophy Patients (University of Rochester)
Accelerates research in myotonic dystrophy and FSH dystrophy by connecting patients with researchers, collecting longitudinal
data to track disease progression, and disseminating information to families, researchers, and care providers.
Myotonic Dystrophy Foundation Family Registry (PatientCrossroads)
Connects patients to researchers and allows patients to compare their symptoms with those of other patients.
Services for Patients & Families in New Mexico (NM)
Service Categories | # of providers* in: | NM | NW | Other states (3) (show) | | NV | RI | UT |
---|---|---|---|---|---|---|---|---|
Biochemical Genetics (Metabolics) | 1 | 1 | 2 | 3 | 2 | |||
Developmental - Behavioral Pediatrics | 2 | 1 | 3 | 12 | 9 | |||
Dieticians and Nutritionists | 1 | 1 | 4 | 3 | 6 | |||
Early Intervention for Children with Disabilities/Delays | 34 | 3 | 31 | 13 | 51 | |||
General Dentistry | 12 | 1 | 13 | 35 | 98 | |||
Medical Genetics | 2 | 1 | 5 | 4 | 7 | |||
Neuromuscular Clinics | 1 | 1 | 2 | 3 | 3 | |||
Occupational Therapy | 17 | 1 | 23 | 20 | 36 | |||
Pediatric Cardiology | 3 | 4 | 17 | 4 | ||||
Pediatric Dentistry | 6 | 2 | 25 | 41 | 50 | |||
Pediatric Endocrinology | 4 | 1 | 6 | 12 | 6 | |||
Pediatric Gastroenterology | 2 | 5 | 18 | 2 | ||||
Pediatric Neurology | 5 | 5 | 17 | 8 | ||||
Pediatric Ophthalmology | 6 | 1 | 6 | 8 | 4 | |||
Pediatric Orthopedics | 7 | 4 | 8 | 16 | 11 | |||
Pediatric Otolaryngology (ENT) | 11 | 1 | 5 | 7 | 9 | |||
Pediatric Physical Medicine & Rehabilitation | 3 | 3 | 3 | 6 | 11 | |||
Pediatric Pulmonology | 4 | 4 | 6 | 3 | ||||
Physical Therapy | 12 | 9 | 5 | 40 | ||||
Preschools | 6 | 30 | 10 | 71 | ||||
Rec Centers, Parks, Zoos & Museums | 10 | 3 | 39 | 23 | 62 | |||
Sleep Disorders | 2 | 1 | ||||||
Speech - Language Pathologists | 23 | 4 | 11 | 32 | 65 | |||
Therapy/Counseling | 90 | 25 | 350 | 140 | 590 |
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Authors & Reviewers
Author: | Lynne M. Kerr, MD, PhD |
Reviewer: | Nicholas Johnson, MD, MS-CI |
2018: update: Lynne M. Kerr, MD, PhDA; Nicholas Johnson, MD, MS-CIA |
2016: update: Meghan S Candee, MD, MScR; Nicholas Johnson, MD, MS-CIR |
2013: first version: Nicholas Johnson, MD, MS-CIA; Lynne M. Kerr, MD, PhDA |
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Ho G, Cardamone M, Farrar M.
Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.
World J Clin Pediatr.
2015;4(4):66-80.
PubMed abstract / Full Text
Ho G, Carey KA, Cardamone M, Farrar MA.
Myotonic dystrophy type 1: clinical manifestations in children and adolescents.
Arch Dis Child.
2018.
PubMed abstract
Johnson NE.
Myotonic Muscular Dystrophies.
Continuum (Minneap Minn).
2019;25(6):1682-1695.
PubMed abstract
Johnson NE, Abbott D, Cannon-Albright LA.
Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis.
Muscle Nerve.
2015;52(4):659-61.
PubMed abstract / Full Text
Johnson NE, Aldana EZ, Angeard N, Ashizawa T, Berggren KN, Marini-Bettolo C, Duong T, Ekström AB, Sansone V, Tian C, Hellerstein
L, Campbell C.
Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1.
Neurol Clin Pract.
2019;9(5):443-454.
PubMed abstract / Full Text
Johnson NE, Ekstrom AB, Campbell C, Hung M, Adams HR, Chen W, Luebbe E, Hilbert J, Moxley RT 3rd, Heatwole CR.
Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.
Dev Med Child Neurol.
2015.
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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Neurology.
2020;94(9):414.
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