Muscular Dystrophy
Muscular Dystrophy Treatment in South Carolina
Neurology Specialists in Greenville, SC
What is Muscular Dystrophy?
Muscular dystrophy (MD) refers to a group of inherited diseases characterized by progressive weakness and loss of muscle mass. In these disorders, abnormal genes interfere with the production of proteins needed for healthy muscle formation.
The most common type is Duchenne MD, which primarily affects boys. Symptoms typically begin in early childhood and can lead to severe physical disability. Other forms can emerge later in life and progress more slowly.
Symptoms of Muscular Dystrophy
MD symptoms can vary depending on the type and progression of the disease. Symptoms generally involve progressive muscle weakness and can include:
- Muscle weakness
- Difficulty walking
- Difficulty swallowing or breathing
- Learning disabilities
- Enlarged calf muscles
- Limited range of motion
What Causes MD?
MD is mostly caused by genetic mutations that interfere with the production of proteins necessary for healthy muscle development and function. These changes are usually inherited, meaning they are passed down from parents to their children.
There are different types of muscular dystrophy, each caused by mutations in different genes and affecting specific muscle groups. For instance, Duchenne MD, the most common form, is caused by a mutation in the DMD gene which is responsible for the production of a protein called dystrophin, vital for muscle cell health.
Despite its genetic roots, not all cases of muscular dystrophy are inherited. Some happen due to random genetic mutations at the point of conception or from environmental factors that damage the genes.
Muscular Dystrophy Treatment
While there is currently no cure for MD, many treatments can help manage symptoms, maintain mobility for as long as possible, and improve the quality of life. The treatment plan may include:
- Medication – Certain medications can help slow muscle weakening, manage symptoms, and address complications
- Physical therapy – Regular physical therapy can help keep muscles flexible, reduce contractures, and maintain mobility
- Occupational therapy – This can teach individuals how to use assistive devices which help with daily tasks like dressing, eating, and bathing
- Speech therapy – If facial and throat muscles are affected, speech therapy can help maintain speaking ability and manage swallowing difficulties
- Respiratory therapy – As the disease progresses, breathing may become difficult, and respiratory therapy, including the use of ventilators, can assist with this
- Surgical interventions – In certain situations, surgery may be needed, such as to correct a curvature of the spine or to improve breathing
Muscular Dystrophy Care in South Carolina
Our Neurology Specialists at CONA are equipped with extensive training and experience to assist patients in managing and treating their neurological conditions, including muscular dystrophy. Are you grappling with a neurological disorder or experiencing symptoms that concern you?
At this time, we do require referrals to schedule an appointment, and we advise consulting your primary care physician or family doctor for a referral to see one of our highly skilled Neurology Specialists at CONA.