What Are Usually the First Signs of Muscular Dystrophy?

Muscular dystrophy is a group of more than 30 genetic diseases that cause weakness and loss of muscle mass. The condition is progressive, meaning it gradually worsens over time.

Muscular dystrophy is caused by mutations in the genes that are responsible for the production of proteins that protect muscle fibers and ensure that they function properly. Mutations can cause defects that can hinder function and cause increasing disability in the long run.

Symptoms vary depending on the type of muscular dystrophy and muscles involved:

• Duchenne muscular dystrophy: Most common and severe type of muscular dystrophy that typically affects boys in early childhood. Symptoms could include frequent falls, difficulty standing from a lying or sitting position, and difficulty running or jumping, and walking on the toes.
• Becker muscular dystrophy: Caused by a similar gene mutation to Duchenne muscular dystrophy but characterized by milder symptoms. It affects men more than women and presents between ages 11-25.
• Myotonic dystrophy: Can develop at any age although it is more common between ages 20-30. Symptoms include inability to relax muscles following contractions, as well as long, thin facial structures, drooping eyelids, and swan-like necks.
• Facioscapulohumeral muscular dystrophy: Typically presents in teenage years although it can occur in childhood or adulthood. It advances gradually and is usually not serious. Muscle weakness commonly starts in the face, hip, and shoulders. Shoulder blades may stick out like wings when the arms are raised.
• Limb-girdle muscular dystrophy: Generally occurs in adolescence or early adulthood. It can advance rapidly or progress gradually. Individuals with this type of muscular dystrophy may experience difficulty lifting the front part of their foot and thus fall frequently.
• Oculopharyngeal muscular dystrophy: Usually develops after age 40. It generally does not have an impact on life expectancy. It first affects the eyes and throat and can then go on to affect the shoulders, upper legs, and hips.
• Congenital muscular dystrophy: Affects both girls and boys equally and is noticeable at birth before age 2. Some cases progress gradually and cause mild disability, whereas others progress quickly and cause extreme weakness.
• Emery-Dreifuss muscular dystrophy: Develops in childhood or early adulthood. Symptoms may include weakness in the arms, legs, joints, and heart.

Your primary care physician will talk to you about your medical history and perform a physical examination. To confirm a diagnosis of muscular dystrophy, they may order certain tests that include:

• Blood tests
• Electromyography
• Muscle biopsy
• Enzyme tests
• Genetic tests

There is no cure for muscular dystrophy. However, medications and physical rehabilitation can assist with physical disabilities and other problems:

• Medication: Steroids to further develop muscle strength or angiotensin-converting enzyme inhibitors and beta-blockers to treat heart issues
• Surgery: To address problems such as scoliosis and contractures
• Mobility assistance: Includes exercises, physiotherapy, and assistive devices
• Support groups: To help manage the practical and emotional effects of the disease