When the muscles start getting weaker everyday and one cannot move his or her body parts as usually do, do you know what it feels like? Muscular Dystrophy (MD) affects thousands of people globally. But what is it exactly? And most importantly can it be managed practically? Read this comprehensive guide that provides an overview of the causes of muscular dystrophy, its kinds, symptoms and treatments that are available.
Causes of Muscular Dystrophy
Muscular dystrophy is a termed used to refer to a number of diseases that are classified as genetic disorders that cause muscle loss and atrophy. It is because genes that are usually involved in the formation of proteins that are crucial to the health of muscles are affected. The type and severity of muscular dystrophy are defined by the exact gene mutation.
Inheritance Patterns
❖ X-linked Recessive: Congested with Duchenne and Becker muscular dystrophies, mainly in boys.
❖ Autosomal Dominant: Observed in diseases for instance Facioscapulohumeral muscular dystrophy (FSHD).
❖ Autosomal Recessive: Also noticed in atrophy in the limb-girdle muscle dystrophy.
Though the disease is genetic, it can also occur when a person acquires gene mutations at some point in his or her life.
Types of Muscular Dystrophy
This disease of the skeletal muscles is not one but a group of diseases, specifically referred to as Muscular dystrophy. The most common types include:
Duchenne Muscular Dystrophy (DMD)
❖ Onset: Early childhood (2-6 years).
❖ Symptoms: Muscle wasting, impaired movement, and just as the disease advances, the loss of ability to move around.
❖ Cause: Dystrophin protein deficiency.
Becker muscular dystrophy (BMD)
❖ Onset: It affects early adulthood or adolescence.
❖ Symptoms: The progression is slower than DMD, but muscle weakness remains the major characteristic of the disorder.
Myotonic Dystrophy
❖ Onset: Adulthood.
❖ Symptoms: Trembling, spasms, cardiac ailments, and eye lens disorders.
Facioscapulohumeral Muscular Dystrophy (FSHD)
❖ Onset: Late teens or early year of adulthood
❖ Symptoms: Loss of muscle strength in the face, shoulders and in the upper part of the arms.
Limb-Girdle Muscular Dystrophy (LGMD)
❖ Onset: Childhood or adulthood.
❖ Symptoms: Stiffness in hips and shoulders, that spread to arms and legs..
Symptoms of Muscular Dystrophy
The symptoms vary depending on the type, but common signs include:
❖ Muscle Weakness: For example starting from the hips and shoulders or the face.
❖ Difficulty Walking: Stilted walk, tendency to fall over, and inability to get up from a sitting posture.
❖ Loss of Reflexes: They also suffer from impaired ability to respond to stimuli.
❖ Skeletal Deformities: Spinal curvature (scoliosis) and joining contracture.
❖ Breathing Problems: The results indicate that patients with advanced stages have weaker respiratory muscles compare to the other stages of the disease.
Diagnosis of Muscular Dystrophy
Diagnosing muscular dystrophy involves a combination of tests, such as:
❖ Genetic Testing: Diagnostic test: Detects mutations in the dystrophic gene, or other causal genes.
❖ Electromyography (EMG): Records movements with regards to electrical signals in muscles.
❖ Muscle Biopsy: The method helps in assessing muscle tissue for possibilities of diseases.
❖ Blood Tests: Ischemic damage to skeletal muscle is associated with increased concentrations of creatine kinase (CK).
It is important for patient to get diagnosed early so that the disease can be effectively controlled.
Treatment and Management
Though there is no known cure for muscular dystrophy, different ways can be put in practice to help to ease the effects of this illness and put the patient’s comfort first.
1. Medications
❖ Corticosteroids: Possibly allow muscles to age better and get stronger.
❖ Heart Medications: This apply to cases of dilated, restrictive and arrhythmogenic right ventricular cardiomyopathy in specified types of MD.
❖ Exon Skipping Therapy: Aims at certain specific genetic mutations in the disease, known as Duchenne muscular dystrophy.
2. Physical Therapy
❖ Stretching and Strengthening Exercises: Persevere for joint movement and avoid contractures.
❖ Assistive Devices: Orthopedic appliances include hand braces, walking, and Rolling wheels, wheel chairs and others for the mobility aids.
3. Respiratory Support
When the condition worsens, non-invasive ventilation (CPAP) or even invasive mechanical ventilation helps the person breathe.
4. Surgical Interventions
❖ Spinal Fusion: Corrects scoliosis.
❖ Tendon Release Surgery: Enhances mobilization of limbs/states/prolongs joint flexibility.
5. Experimental Treatments
❖ Gene Therapy: Potential promising focus area that focuses more on replacing or repairing the faulty genes.
❖ Stem Cell Therapy: Currently, investigation has been conducted to replace the contractual muscles tissue.
Living with Muscular Dystrophy
Treating muscular dystrophy involves more than care from doctors and other health care providers. Counselling support groups and use of adapted coping strategies can be of immense help.
Tips for Patients and Caregivers
❖ Focus on Nutrition: Proper nutrition is preferred for general health and for functional muscles.
❖ Create an Accessible Environment: Physical changes to the home that enable the users to move around independently.
❖ Stay Informed: Read freshest scientific developments and treatments.
❖ Seek Emotional Support: People becoming members of certain groups that cheer each other and share lessons.
Future Perspectives
Studying muscular dystrophy is still ongoing and great progress is being made I terms of the understanding of this disease. New technologies such as CRISPR gene editing and new generation of exon skipping drugs are promising in changing the treatment regimen. More research is done for the same and there is hope in future in relation to discovering a cure.
For such more related content don't forget to check out our blogs on Treatments.
Conclusion
However, muscular dystrophy is not an impossible condition to deal with provided that appropriate methods of treatment, as well as other helpful therapies and supportive systems are properly chosen. Screening for this, individualized management and treatment as well as continued research forms the key fundamentals that can go a long way towards improving the quality of these peoples lives.
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