Duchenne Muscular Dystrophy

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Author: Adekola Taylor
June, 2015

Introduction

Duchenne muscular dystrophy is a gradual, severely incapacitating neuromuscular disease that distresses 1 in 3500 newborn boys and causes muscle weakness and premature death (Cirak et al., 2011). Duchenne muscular dystrophy disorder is initiated by a mutation in the open reading frame of the X-linked dystrophin gene (DMD), which assembles with sarcolemmal proteins such as a-sarcoglycan, neuronal nitric oxide synthase (NOS), and dystroglycan to provide the dystrophin-related glycoprotein complex of the cell membrane. Females hardly ever show signs of the disease. However, both male and female may carry the mutation.

Nursing Care Plan Physical Examination and Assessment

Duchenne is typically a genetic disease; therefore, a complete developmental and family history will provide significant diagnostic data for any patient with Duchenne muscular dystrophy. Adults with Duchenne muscular dystrophy may report progressive muscle weakness of the shoulder, face, and leg. Children with the disease are presented with a history of deferred motor signs, such as standing, walking, and sitting. Other associated early signs include abnormality of facial movement, inability of facial muscles to change while crying and laughing, and difficulty in puckering the lips.

Patient’s ability to get up from a chair, raise the arms above the head, or work is used to assess Duchenne muscular dystrophy since many dystrophies are associated with the shoulder girdle and hip musculature which results to functional problems. Contractures and scoliosis (curvature of the spine) should be inspected. Observe a characteristic sign of Gower’s maneuver in which patients use their hands to walk up the leg until they can stand erect. Weakness of the heart muscles may cause tachycardia, and pneumonia develops easily because of weakness and ineffectiveness of the cough reflex.


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Nursing Diagnosis and Interventions

The major nursing diagnosis of the disease is impaired physical mobility as a result of muscle degeneration. Tests such as creatine kinase test, genetic testing, and muscle biopsy are needed to confirm Duchenne muscular dystrophy. For now, there is no existing cure for the disease; therefore, its therapeutic management is centered on the maintenance of the highest level of functional independence and management of symptoms. The interventions for psychosocial management of Duchenne muscular dystrophy include psychotherapy, pharmacological, educational, social and supportive care. The underlying rationales for these interventions are to improve learning, behavior and coping, and to promote social development and independence (Bushby et al., 2010).

Current Research

There are various types of current research being done with this disease. Some parts of current research are:

  • The gene therapy called “exon skipping” which is still in the early stage of development,
  • Cell therapy is based on using dystrophin-producing cells to cure muscular dystrophy,
  • Getting the dose and type of steroid therapy to maintain muscle strength, and
  • Developing a pharmacological treatment that will help produce a protein called “utrophin” which is similar to dystrophin (Patient.co.uk, 2014).

Teaching Plan for Children with Dystrophy and their Parents

Teaching varies with the phases of diseases and interventions. In respect to psychosocial interventions, parents and child should be encouraged to keep peer relationships and develop intellectual development by making the child go to school as long as possible. For the pulmonary intervention, patient and family should be taught how to avoid respiratory problems and parents should report respiratory infections as soon as possible (Bushby et al., 2010).

Two Test Questions on Duchenne Muscular Dystrophy

  1. What are the interventions for orthopedic management of Duchenne muscular dystrophy?
    Answer: They are the posterior spinal fusion and tendon surgery. However, orthopedic surgery is rare. It is to correct bone posture.
  2. What are the assessments for psychosocial management for Duchenne muscular dystrophy?
    Answer: coping, autism, social work, neurocognitive, speech and language. These assessments are carried out to appropriate the correct interventions for patients.

References

Bushby Katharine, Finkel Richard, Birnkrant David et al. (2010). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management Lancet Neurol, (9): 77–93. Retrieved from http://download. thelancet.com/pdfs/journals/laneur/PIIS1474442209702716.pdf?id=iaaXUj1H_nNv I9vnN0xFu

Cirak Sebahattin , Arechavala-Gomeza Virginia, Guglieri Michela, Feng Lucy , Torelli Silvia et al. (2011). Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet, 378(9791): 595–605. Retrieved from http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm

Patient.co.uk. (2014). Duchenne muscular dystrophy. Retrieved from http://www.patient.co.uk /pdf/8629.pdf

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