Muscular Dystrophy (MD) refers to a group of genetic disorders characterized by progressive muscle weakness and degeneration.

These conditions are typically inherited and result from mutations in genes responsible for muscle structure and function.

Over time, individuals with MD experience increasing difficulty with mobility and daily activities, such as walking or lifting objects (1, 2).

Common Symptoms

• Muscle weakness happens in the significant body parts often feeling tired easily.
• Trouble walking results in slow or unsteady staggering walk ends up in swaying while walking.
• Frequent falls because of poor balance that results in difficulty standing up and lying flat.
• Stiffness in muscles makes it hard to stretch their limbs.
• Prolonged stretching increases the chances of getting a curved spine (Scoliosis).
• High chance of encountering breathing problems in advanced stages and heart problems.
• Learning delays may likely occur in some children (2).

Causes of MD

MD is a progressive degenerative disease that leads to muscle waste and loss of muscle fibers in the human body (3).

1. Early Ambulatory – appears in 2-5 years of age which results in the gap in achieving the developmental milestones.
2. Late Ambulatory – appears during Adolescence causes fatigue and atrophy ends in muscle wasting.
3. Non-Ambulatory – for instance, it can be seen during teenage years risk of developing complications like cardiomyopathy, arrhythmia, atrophy, and pneumonia (3).

Risk Factors

• defective genes.
• inappropriate sex.
• previous family history.
• age factors.
• inherited mutations.
• environmental factors (toxins) (3).

Diagnosis

1. Muscle Dystrophy can be diagnosed,
2. Through prescribed physical exams (activities) – toe walking
3. Blood tests (to check muscle enzymes and genetic markers)
4. Muscle biopsies, and EMG tests to study muscle activity
5. Monitoring the breathing problems
6. MRI scans (3)

Treatment options for MD

Muscular Dystrophy (MD) particularly has no permanent cure as of now (2, 3).

• Physical therapy– maintaining motion and muscle strength.
• Occupational therapy – performing daily chores as independently as possible.
• Speech therapy – experiencing speech and its modulations.
• Respiratory therapy – advocating non-invasive ventilation.

Surgical cures

Mostly, surgery helps to manage symptoms such as heart problems, spinal problems, and tracheostomy.

Assistive devices

Canes, braces, walkers, and wheelchairs can greatly help in terms of mobility.

Surviving with Muscle Dystrophy

On the other hand, survival with MD means maintaining proper mental well-being by staying active and seeking mental health support.

However, having a support system, such as family, friends, and relatives, and a change in atmosphere occasionally brings positive changes.

Mostly, regular therapy helps. Moreover, it has adverse challenges; many live with utmost care, with observation along with future outlook.

Reference

1. Theadom A, Rodrigues M, Roxburgh R, Balalla S, Higgins C, Bhattacharjee R, Jones K, Krishnamurthi R, Feigin V. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology. 2014;43(3-4):259-68. doi: 10.1159/000369343. Epub 2014 Dec 16. PMID: 25532075.
2. Wicklund MP. The muscular dystrophies. Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1535-70. doi: 10.1212/01.CON.0000440659.41675.8b. Erratum in: Continuum (Minneap Minn). (3 Neurology of Systemic Disease):520. PMID: 24305447; PMCID: PMC10564029.
3. ‏Bez Batti Angulski A, Hosny N, Cohen H, Martin AA, Hahn D, Bauer J, Metzger JM. disease mechanism and therapeutic strategies. Front Physiol. 2023 Jun 26;14:1183101. doi: 10.3389/fphys.2023.1183101. PMID: 37435300; PMCID: PMC10330733