Muscular dystrophy

21:54 - 4 May , 2021

Disease

What is Muscular dystrophy?

It refers to a set of conditions that damage the neuromuscular system and weaken the muscles, reducing muscle mass and ultimately causing serious complications and significant disabilities. Among the identified causes are genetic defects that prevent muscle fibers from developing correctly, producing motor difficulties. So far it is not possible to prevent this disease, since its origin is hereditary and it occurs in the embryonic development phase. There are several muscular dystrophies. Among the most important are:
  • Duchenne.
  • Becker
  • Cingoli.
  • Emery-Dreifuss.
  • Myotonic.
  • Muscular distal.
  • Facioscapulohumeral.
Life expectancy will depend on the type of muscular dystrophy and its evolution. Some are mild and develop gradually, while others are serious and cause severe disabilities.

Symptoms

Although each type of dystrophy has its own characteristics, they all present a loss of muscle function with similar symptoms. At an early stage:
  • Weakness, pain, and muscle stiffness.
  • Facial weakness.
  • Difficulty performing routine movements such as going up or down the stairs, picking up objects, combing hair, or getting up from a chair.
  • Walk with the abdomen forward.
  • Extreme tiredness after performing simple movements.
  • Recurrent falls.
  • Joint limitations.
  • Tendon retractions.
In advanced stages, respiratory and cardiac disorders arise, causing insufficiency in both cases, scoliosis and lordosis, swallowing difficulties, and progressive inability to walk and move the upper limbs.

Diagnosis and treatment

In addition to analyzing the symptoms and clinical history, the doctor will perform a physical examination and request a blood test to verify the values of creatine phosphokinase, which may indicate an alteration in the muscle fibers, which most of the time triggers dystrophy. Also, the doctor will perform genetic tests, an electromyogram, and a muscle tissue biopsy to analyze the levels of dystrophin, which is the protein that gradually stops being synthesized in patients with the disease. A cardiac and respiratory evaluation will also be necessary. Muscular dystrophy is incurable, but some therapies help reduce symptoms and improve the quality of life of those affected. At the beginning of the disease, the intake of anti-inflammatory drugs with steroids helps reduce fatigue, increase motor activity, and eliminate respiratory problems. In the event of cardiac involvement, the doctor will analyze whether it is advisable to use angiotensin-converting enzyme inhibitors to reduce symptoms or perform surgery to implant a pacemaker. In later phases, when difficulties in respiratory function occur, non-invasive mechanical ventilation therapy may be required. In more extreme situations, a tracheotomy. Secondary musculoskeletal conditions are treated with splints, braces, orthopedic aids, physical therapy, and nutritional and psychological counseling. At ABC Medical Center’s Internal Medicine Department, we offer health care services with the highest quality and safety, from the prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies of both chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.

Fuentes:

  • stanfordchildrens.org
  • hopkinsallchildrens.org
  • mayoclinic.org
  • medlineplus.gov
  • msdmanuals.com
  • topdosctors.es
  • medigraphic.com
  • Fokkema J, López-Hernández S, López-Hernández LB. Impacto de las organizaciones de padres en la investigación de la distrofia muscular de Duchenne: el activismo materno como motor de cambio. Investigación en Discapacidad. 2013;2(3):135-140.
  • Quesada VM, Esquivel RN, Rosales GJM. Distrofia muscular de Duchene: diagnóstico y tratamiento . Revista Médica Sinergia. 2019;4(12):315.
  • Perera CRN, Taylor MMA, Villanueva AD, et al. Relación entre gateo y diagnóstico de distrofia muscular de Duchenne. An Med Asoc Med Hosp ABC. 2019;64(3):171-177.
  • Pontevedra BR, Da Cuña CI. Tratamiento farmacológico y génico en las distrofias musculares de Duchenne y Becker. Rev Cubana Pediatr. 2018;90(4).

						
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