Muscular dystrophy

Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.

1. MUSCULAR DYSTROPHY MRS. JOAN FREEDA HONEY NURSING TUTOR

2. SPECIFIC OBJECTIVES At the end of the class students will be able to: Define Muscular dystrophy discuss the causes of muscular dystrophy Explain the types of muscular dystrophy describe the management of muscular dystrophy Discuss the nursing care of muscular dystrophies

3. INTRODUCTION Muscular dystrophies are a group of inherited muscle disorders in which one or more genes needed for normal muscle structure and function are defective, leading to muscle weakness of varying severity.

4. DEFINITION Muscular Dystrophy is a genetic disorder that gradually weakens the body’s muscles. It’s caused by incorrect or missing genetic information that prevents the body from making the proteins needed to build and maintain healthy muscles.” 

5. CAUSES Defects in certain genes In 1986, researchers discovered the gene that, when defective causes Duchenne MD . In 1987, the muscle protein associated with this gene was given the name dystrophin When the gene fails to produce dystrophin, Duchenne MD occurs Duchenne muscular dystrophy is the most common and fatal childhood type

6. TYPES

7. Duchenne muscular dystrophy (DMD ) common form of muscular dystrophy Duchenne patients have a mutation in the  DMD gene  that causes a lack of dystrophin protein. Dystrophin maintains the structure of muscle fibers, so without dystrophin, a patient’s muscles gradually degrade .

8. GOWER’S SIGN GOWER’S sign   describes a patient that has to use their hands and arms to "walk" up their own body from a squatting position due to lack of hip and thigh muscle strength.

9. Duchenne muscular dystrophy (DMD )- symptoms The first signs of DMD usually occur between ages 1 and 3. As they grow, boys start to have  difficulty running, jumping, and standing and most of them need a wheelchair by their teen years. Muscle degradation can be severe enough to shorten  life expectancy though modern treatments can generally slow muscle deterioration, so it is not uncommon for patients to live into their  30s and 40s.

10. Emery- Dreifuss muscular dystrophy ( EDMD ) I s a slowly progressing form of muscular dystrophy characterized by weakness in the skeletal and heart muscles. This type of muscular dystrophy affects men more often than women.

11. Emery- Dreifuss muscular dystrophy ( EDMD )

12. Limb-girdle muscular dystrophy ( LGMD ) Is associated with a weakening of both the shoulder and upper-arm muscles and the central hip muscles . LGMD can appear as early as childhood and as late as middle age, and usually progresses very slowly . Muscle degradation linked to LGMD can result in a  Waddle- like gait and difficulty reaching over head . In advanced stages of LGMD , heart and breathing muscles also may be affected.

13. Limb-girdle muscular dystrophy ( LGMD )

14. Facioscapulohumeral muscular dystrophy ( FSHD ) usually emerges in the teen years or early adulthood. Severity differs among patients, but most FSHD patients experience  muscle weakneess in face and shoulders . They usually have difficulty raising their arms, whistling, and making certain facial expressions, such as closing their eyes tightly.

15. POLY - HILL SIGN The poly-hill sign is based on the fact that various muscular dystrophies have selective weakness, wasting or enlargement of either a group of muscles or a part of a muscle.

16. BEEVOR’S SIGN

17. Oculopharyngeal muscular dystrophy (OPMD ) A type of muscular dystrophy characterized by weakening in the muscles that control the eyes and the throat . Symptoms appear later in life, around age 40 to 60. The first symptoms usually are difficulty swallowing and drooping eyelids. As the disease progresses, patients may have weakening in the muscles of the shoulders or pelvis, which may extend to the legs.

18. Oculopharyngeal muscular dystrophy (OPMD)

19. PATHOPHYSIOLOGY

20. DIAGNOSTIC STUDIES MUSCLE BIOPSY- muscle fIbers of varying size as well as small groups of neιrotic and regenerating fIbers . Connective tissue and fat replace lost muscle fIbers . DNA TESTING - mutation analysis on peripheral blood leukocytes by Western blot analysis IMMUNOCYTOCHEMICAL STAINING : dystrophin antibodies can be used to demonstrate absence or defIciency of dystrophin localizing to the sarcolemmal membrane. BLOOD ENZYME TEST - Serum CK levels : elevated between 20 and 100 times normal. ELECTROMYOGRAPHY - features typical of myopathy

21. OBER’S TEST

22. Drug therapy Glucocorticoids , such as prednisone- It can increase muscle strength, ability, and respiratory function and slow the progression of weakness. Side effects may include weight gain Exondys 51 helps cells produce more dystrophin protein (the protein lacking in DMD) by driving the protein-making machinery of the cell to skip over the mutation.  Myostatin is a protein forming part of the transforming growth factor-B family, which regulates muscle size.

23. Non-pharmacological Management Physical Therapy- Beginning physical therapy early can help keep muscles flexible and strong. A combination of physical activity and stretching exercises may be recommended . Respiratory Therapy- Many people with MD do not realize they have little respiratory strength until they have difficulty coughing or an infection leads to pneumonia . many MD patients require assisted ventilation . Speech Therapy- MD patients who experience weakness in the facial and throat muscles may benefit from learning to slow the pace of their speech by pausing more between breaths 3  and by using special communication equipment.

24. NURSING MANAGEMENT Promoting mobility – Administering carticosteroids and calcium supplements , Performing passive stretching and strengthening exercises Maintaining cardio-pulmonary function – Teaching deep breathing exercises and performing chest physiotherapy Preventing complications and promoting quality of life –developing a divertional schedule , Providing emotional support

25. CONCLUSION DMD is caused by various mutations in the DMD gene and result in a loss of the skeletal muscle protein dystrophin, which leads to a degradation of skeletal muscle. There is still no treatment that cures this illness. Active research on this topic is currently underway. 

26. References Craven , H. (Ed.). (2016). Core Curriculum for Medical-Surgical Nursing. (5th ed.). Pitman, NJ : Academy of Medical-Surgical Nurses. Lewis, S.L. , Dirksen, S.R., Heitkemper , M.M., Bucher, L., & Harding, M.M. (2017). Medical-Surgical Nursing: Assessment and Management of Clinical Problems (10th ed.). St. Louis: Elsevier.