Duchenne Muscular Dystrophy (DMD)


There are a number of guideline recommendations available by the American Academy of Neurology (AAN) for the evaluation, diagnosis, management, treatment, and care of patients affected by muscular dystrophy.1

These cover several types of muscular dystrophy and include the consensus-based care recommendations for children with myotonic dystrophy type 1 and adults with myotonic dystrophy types 1 and 2, practice guideline on corticosteroid treatment of Duchenne muscular dystrophy (DMD), evidence-based guideline summary for the evaluation, diagnosis, and management of congenital muscular dystrophy, evidence-based guideline summary for the evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy (FSHD), and evidence-based guideline summary for the diagnosis and treatment of limb-girdle and distal muscular dystrophies. 

Consensus-Based Care Recommendations for Children With Myotonic Dystrophy Type 1

This guide contains information about the diagnosis and classification of myotonic dystrophy, as well as information about genetic counseling, neonatal care, palliative care, and surgery and anesthesia.2

In its second part, the guideline provides information about systems-based approaches to management, including respiratory, cardiovascular, skeletal, ocular, auditory, gastrointestinal, genitourinary, neurodevelopmental, and psychosocial management of children affected by the disease. 

Consensus-Based Care Recommendations for Adults With Myotonic Dystrophy Type 1

The guideline provides clinical care recommendations for 19 discrete body systems and care considerations for adult patients with myotonic dystrophy type 1 to help standardize and elevate care and reduce variability in clinical trials.3

It contains information on surgery, anesthesia, pain, and respiratory and cardiovascular symptoms of the disease, as well as pregnancy and obstetric management of patients.

The guidelines also contain clinical care recommendations for severe symptoms such as skeletal muscle problems, excessive daytime sleepiness (EDS), tumors, and ocular, gastrointestinal, neuropsychiatric, psychosocial, endocrine, and metabolic symptoms. 

Consensus-Based Care Recommendations for Adults With Myotonic Dystrophy Type 2

This guideline is organized in 2 sections, which provide recommendations about the management of life-threatening symptoms, such as cardiovascular and respiratory symptoms, and severe symptoms including pain, skeletal muscle weakness, skeletal muscle myotonia, excessive daytime sleepiness, and ocular, gastrointestinal, neuropsychiatric, endocrine, and metabolic symptoms. It also contains information about the management of these symptoms, including surgical management and anesthetic considerations.4

The guideline also offers supplemental recommendations about diagnosis, genetic counseling, and pregnancy and obstetric management of patients. 

Practice Guideline on Corticosteroid Treatment of DMD

This guideline contains information about prednisone and deflazacort, the 2 corticosteroids routinely prescribed to patients with DMD. It outlines the efficacy of corticosteroids in terms of disease progression and effects on survival, quality of life, motor function, scoliosis, and pulmonary and cardiac function.5

The guideline also includes information about the side effects of corticosteroid treatments and the optimal dosing regimen.

A summary of the guideline is also available for patients. 

Evidence-Based Guideline Summary for the Evaluation, Diagnosis, and Management of Congenital Muscular Dystrophy

Following general recommendations, the guideline provides information about the use of clinical features, magnetic resonance imaging (MRI), and muscle biopsy for the diagnosis of the disease. It also provides information about genetic diagnosis.6

The guideline also covers areas such as complications and treatment, including respiratory,  cardiac, and musculoskeletal complications, as well as complications from dysphagia and periprocedural complications.

A patient summary of the guidelines is available in English, Spanish, and Korean.

Evidence-Based Guideline Summary for the Evaluation, Diagnosis, and Management of FSHD

This guide contains information about the diagnosis of FSHD and predictors of disease severity.7 It also provides a guide on monitoring for complications of the disease, including pulmonary and cardiac complications, retinal vascular disease, hearing loss, and pain.

Finally, the guide provides recommendations about the treatment of FSHD, including pharmacologic interventions, surgical scapular fixation, and aerobic exercises.

There is a mobile app for physicians and patients summarizing the recommendations. 

Evidence-Based Guideline for the Diagnosis and Treatment of Limb-Girdle and Distal Dystrophies

This guide contains information about the screening, diagnosis, and treatment of different types of limb-girdle and distal muscular dystrophies.8

It focuses on therapeutic approaches in cases of cardiac involvement, dysphagia, pulmonary complications, spinal deformities, osteoporosis, and infection. It also provides information about treatment, including clinical rehabilitative management, strength training, aerobic exercises, and medical treatments.

The American Academy of Neurology (AAN) also presents a case example of a 22-year-old patient for reference.9

A summary of the guideline is also available in Korean for physicians and in Spanish for patients, as are the mobile apps for physicians and patients. 

References

  1. Policy & guidelines – neuromuscular. American Academy of Neurology. Accessed June 23, 2021.
  2. Consensus-based care recommendations for children with myotonic dystrophy type 1. Myotonic Dystrophy Foundation. Accessed June 23, 2021.
  3. Ashizawa T, Gagnon C, Groh WJ, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018;8(6):507-520. doi:10.1212/CPJ.0000000000000531
  4. Consensus-based care recommendations for adults with myotonic dystrophy type 2. Myotonic Dystrophy Foundation. Accessed June 23, 2021.
  5. Gloss D, Moxley RT III, Ashwal S, Oskoui M. Practice guideline update summary: corticosteroid treatment of Duchenne muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016;86(5):465-472. doi:10.1212/WNL.0000000000002337
  6. Kang PB, Morrison L, Iannaccone ST, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015;84(13):1369-1378. doi:10.1212/WNL.0000000000001416
  7. Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M. Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015;85(4):357-364. doi:10.1212/WNL.0000000000001783
  8. Narayanaswami P, Weiss M, Selcen D, et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014;83(16):1453-1463. doi:10.1212/WNL.0000000000000892
  9. Evidence-Based Guideline Summary: Diagnosis and Treatment of Limb Girdle and Distal Dystrophies; Clinical Case Example. American Academy of Neurology. Accessed June 28, 2021.

Article reviewed by Debjyoti Talukdar, MD on July 1, 2021.

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