Muscular Dystrophy Clinic

Understanding Muscular Dystrophy:

A class of hereditary disorders that result in loss of muscle mass and deteriorating strength is Muscular Dystrophy.

Muscle deterioration results from faulty genes (mutations) in muscular dystrophies. Most types start while people are young.

Muscles that are damaged slowly deteriorate. The majority of sufferers eventually require a wheelchair. Other signs include difficulty swallowing or breathing.

Surgery, treatment, breathing devices, or medication may assist retain function, although life expectancy is frequently reduced.

Types of Muscular Dystrophy:

Myotonic: This condition is distinguished by the muscles' inability to unwind following contractions. The muscles of the face and neck are typically the first to be impacted. This type is characterized by long, thin features, swan-like necks, and drooping eyelashes.

FSHD or facioscapulohumeral: Usually, the face, hips, and shoulders are where muscle weakness first appears. When the arms are elevated, the shoulder blades may protrude like wings. Although it can start as early as childhood or as late as age 50, onset typically happens in the teenage years.

Congenital: This type manifests at birth or before the age of two in both males and girls. While some types evolve gradually and just slightly affect people, others advance quickly and seriously harm people.

Limb-girdle: Usually, the hip and shoulder muscles are impacted first individuals of this type.

Symptoms:

• •  Falls often
• •  difficulty getting out of a seated or lying down posture difficulty with jogging and jumping
• •  stumbling gait
• •  stepping onto your toes
•  extensive calf muscles
• •  Painful and tight muscles
• •  Having trouble learning
• •  sluggish growth

Diagnosis:

• Enzyme tests: In your blood, damaged muscles produce enzymes like creatine kinase (CK).High blood levels of CK in a person without a history of trauma point to a muscular disorder.
• Genetic analysis: It is possible to check blood samples for gene mutations that result in certain kinds of muscular dystrophy.
• Muscle biopsy: Muscular dystrophies can be distinguished from other muscle illnesses by analysis of the tissue sample.
• Heart-monitoring tests (electrocardiography and echocardiogram): These tests are used to examine heart function, particularly in those who have been given a myotonic muscular dystrophy diagnosis.
• Lung-monitoring tests: These tests are used to check lung function.
• Electromyography: The muscle under examination is probed with an electrode using a needle. Both when the muscle is relaxed and when it is lightly tightened, electrical activity is recorded. Electrical activity pattern changes can prove a muscle illness.

Prognosis:

Without proper treatment, the life span is normally shorter. With proper medical interventions and early diagnosis it can be treated for keeping them stable for more period of time.

Treatment for Muscular Dystrophy:

• Although there is no cure for any kind of muscular dystrophy, there are a number of therapies that can help patients live more independently and strengthen their heart and lungs. New therapeutics is currently being tested.
• People with muscular dystrophy need to be monitored on regular intervals. On their treatment team should include a physical therapist, a neurologist with knowledge of neuromuscular diseases, and a physical medicine and rehabilitation expert.
• Orthopaedic surgeons, endocrinologists, sleep specialists, pulmonologists, cardiologists, and experts in the heart, lungs, and endocrine system are some additional specialists that some patients may need. Medication, physical and occupational therapy, surgery, and other treatments are available. The treatment team may modify therapy as the illness worsens thanks to ongoing assessments of breathing, swallowing, walking, and hand and arm function.
• Medication, physical and occupational therapy, surgery, and other treatments are available. Ongoing evaluations of breathing, swallowing, and walking and hand function enable the treatment team to adjust treatments as the disease progresses.