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Muscular Dystrophy

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Care of Adults with Chronic Childhood Conditions

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Abstract

Muscular dystrophies are a heterogeneous group of rare neuromuscular disorders that are genetically inherited and characterized by progressive muscle weakness. The patients affected by muscular dystrophies are at a higher risk of suffering multiple comorbidities, such as loss of ambulation, joint contractures, cardiomyopathy, sleep disordered breathing, respiratory failure, dysphagia, malnutrition, and osteopenia/osteoporosis, among other ailments. The following case study is an example of a patient with Duchenne muscular dystrophy and it showcases the challenges that arise as the patient transitions from pediatric to adult healthcare providers. Following the existing published guidelines for the diagnosis and management of muscular dystrophies, the case highlights the need for coordinated multidisciplinary care and early preventive measures as a means to provide optimal care for these patients. The role of primary care providers is of the utmost importance as they are at the center of this coordinated effort among the specialists with the objective of maintaining adequate continuity of care.

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Author information

Authors and Affiliations

  1. Montana Providence Health and Services, Montana Spine and Pain Center, 500 West Broadway, 3rd Floor, Missoula, MT, 59802, USA

    Elba Y. Gerena Maldonado

Authors
  1. Elba Y. Gerena Maldonado
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Corresponding author

Correspondence to Elba Y. Gerena Maldonado .

Editor information

Editors and Affiliations

  1. School of Medicine, Hofstra North Shore-LIJ School of Medicine, LAKE SUCCESS, New York, USA

    Mariecel Pilapil

  2. Mount Sinai School of Medicine , NEW YORK, New York, USA

    David E. DeLaet

  3. University of California Los Angeles , SANTA MONICA, California, USA

    Alice A. Kuo

  4. Baylor Clinic , HOUSTON, Texas, USA

    Cynthia Peacock

  5. Brigham and Women's Hospital , BOSTON, Massachusetts, USA

    Niraj Sharma

Appendix

Appendix

Muscular dystrophy condition fact sheet

Definition

Muscular dystrophies are a heterogeneous group of neurodegenerative diseases characterized by:

• Genetic inheritance

• Progressive muscle weakness as the primary symptom

• Onset of symptoms can be in the pediatric or adult setting

Epidemiology

• In the United States, the most common forms of muscular dystrophy are Duchenne muscular dystrophy (DMD), myotonic dystrophy, and facioscapulohumeral muscular dystrophy (FSHD)

• DMD is an X-linked disease, whereas myotonic dystrophy and FSHD are autosomal dominant

• Newborn screening for DMD places the incidence closer to 1:5,000 live male births

• The worldwide prevalence of myotonic dystrophy lies in the 5–20 per 100,000 range

• The myotonic dystrophies afflict mostly people of European heritage, with lesser frequencies in Asia and a virtual absence of disease in sub-Saharan Africa

• FSHD has a prevalence of approximately 1:15,000–1:20,000

Special considerations

Individuals with muscular dystrophies have high rates of co-morbid physical and mental health conditions, including:

• Loss of ambulation

• Joint contractures

• Cardiomyopathy

• Osteopenia/Osteoporosis

• Gastrointestinal problems

• Dysphagia

• Sleep disorders

• Autism spectrum disorders

• Anxiety and depression

• Respiratory Failure

Recommended screening

• Cardiac: ECG, echocardiogram annually after the age of 10 years old

• Respiratory: spirometry every 6 months and polysomnography if presenting with nocturnal hypercapnia

• Dysphagia: weight and nutritional assessment at every office visit

• Bone health: serum vitamin D levels at every visit, and DEXA scan every 1–2 years

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Gerena Maldonado, E.Y. (2016). Muscular Dystrophy. In: Pilapil, M., DeLaet, D., Kuo, A., Peacock, C., Sharma, N. (eds) Care of Adults with Chronic Childhood Conditions. Springer, Cham. https://doi.org/10.1007/978-3-319-43827-6_15

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  • DOI: https://doi.org/10.1007/978-3-319-43827-6_15

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  • Online ISBN: 978-3-319-43827-6

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