Dystrophy is a term that refers to a group of conditions that cause progressive weakness and loss of muscle mass. Dystrophy can affect different parts of the body, such as the muscles, the eyes, or the hands. Dystrophy is usually caused by genetic mutations that interfere with the production of proteins needed for healthy tissue.
In this article, we will explain the causes, symptoms, diagnosis, and treatment of dystrophy, focusing on the most common type: muscular dystrophy. We will also provide some tips on how to cope with dystrophy and improve your quality of life.
What Causes Dystrophy?
Dystrophy is mainly caused by inherited genetic mutations that affect the structure and function of muscles or other tissues. These mutations can be passed down from parents to children, or they can occur spontaneously during one’s lifetime. The risk factors for dystrophy include:
Gender – Some types of dystrophy are more common in boys than girls
Family history – Having a relative with dystrophy increases the chance of developing it
Age – Some types of dystrophy appear in childhood, while others appear in adulthood
The exact genes and mechanisms involved in dystrophy vary depending on the type and severity of the condition. Some examples of genes that are associated with dystrophy are:
DMD – This gene provides instructions for making a protein called dystrophin, which helps keep muscle cells intact. Mutations in this gene cause Duchenne and Becker muscular dystrophies, which are among the most common and severe forms of muscular dystrophy.
DMPK – This gene provides instructions for making a protein called myotonic dystrophy protein kinase, which is involved in muscle contraction and relaxation. Mutations in this gene cause myotonic dystrophy, which is characterized by an inability to relax muscles after contraction.
FSHD1 – This gene provides instructions for making a protein called DUX4, which is normally inactive in most tissues. Mutations in this gene cause facioscapulohumeral muscular dystrophy (FSHD), which affects the muscles of the face, shoulders, and upper arms.
What are the Symptoms of Dystrophy?
The symptoms of dystrophy depend on the type and location of the affected tissue. The main symptom of muscular dystrophy is progressive muscle weakness, which can lead to difficulty walking, breathing, swallowing, and performing daily activities. Other symptoms of muscular dystrophy may include:
Trouble rising from a lying or sitting position
Walking on the toes
Large calf muscles
Muscle pain and stiffness
Muscle contractures (shortening of muscles or tendons around the joints)
Curved spine (scoliosis)
The symptoms of other types of dystrophy may include:
Vision problems, such as blurred vision, night blindness, cataracts, or retinal detachment
Hand deformities, such as claw hand or camptodactyly (bent fingers)
Skin changes, such as dryness, scaling, or pigmentation
How is Dystrophy Diagnosed?
Dystrophy is diagnosed by a combination of medical history, physical examination, and laboratory tests. Some of the tests that may be used to diagnose dystrophy are:
Blood tests – To measure the levels of certain enzymes or proteins that are released into the blood when muscles are damaged or to detect genetic mutations that cause dystrophy.
Muscle biopsy – To take a small sample of muscle tissue and examine it under a microscope for signs of abnormality.