INTRODUCTION:- Limb-girdle muscular dystrophy is a group of muscle diseases that are characterized by weakness and wasting of specific muscle groups. There are two major types of limb-girdle muscular dystrophy, differentiated by their genetic causes. The first type is caused by mutations in the genes that encode the proteins dysferlin and sarcoglycan, while the…
What is Facioscapulohumeral muscular dystrophy (FSHD)? Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which the muscles of the face, shoulder blades, and upper arms are among the most affected. that initially affects the skeletal muscles of the face (facial), scapula, and upper arms (humeral). FSHD is the third most common genetic disease…
What is an Emery–Dreifuss Muscular Dystrophy (EDMD)? • Emery–Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as skeletal muscles, and also affects the cardiac muscle.• It is named after Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the 1960s. Symptoms of…
What is a Distal Muscular Dystrophy? • Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the hands or feet. Age of onset 40-60 years.• Distal muscular dystrophy is a type of muscular dystrophy that affects the muscles of the extremities, the hands, feet, lower arms, or lower legs….
What is a Duchenne Muscular Dystrophy (DMD)? → Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. This can result in trouble standing up. Most are unable to walk by the age of 12.→ Females with a single copy of the defective gene may show mild symptoms. Scoliosis is…
What is a Congenital Muscular Dystrophy (CMD)? → Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that become apparent at or near birth. Muscular dystrophies in general are genetic, degenerative diseases primarily affecting voluntary muscles.→ Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. Signs / Symptoms → CMD will display some progressive…
What is a Becker Muscular Dystrophy (BMD)? → Becker muscular dystrophy is an inherited disorder that involves slowly worsening muscle weakness of the legs and pelvis. Symptoms of Becker Muscular Dystrophy → Symptoms usually begin in childhood. The average age at diagnosis is 11 years but there is a wide age range. The clinical severity…
What is a Muscular Dystrophy? Muscular dystrophy disease is genetic, and consequently, a history in the family increases the chance of an individual developing the disease. Symptoms of Muscular Dystrophy → Initial symptoms A waddling gaitPain and stiffness in the musclesDifficulty with running and jumpingWalking on toesDifficulty sitting up or standingLearning disabilities, such as developing…
What is Guillain-Barre syndrome (GBS)? Guillain-Barré syndrome is a rare but serious autoimmune disorder in which the immune system attacks healthy nerve cells in your peripheral nervous system. This leads to weakness, numbness, and tingling. It can eventually cause paralysis. The cause of this condition is unknown, but it’s typically triggered by an infectious illness,…
What is a De Quervain’s Tenosynovitis? De Quervain’s Tenosynovitis is also known as BlackBerry thumb, texting thumb, gamer’s thumb, washerwoman’s sprain, radial styloid tenosynovitis, de Quervain syndrome, de Quervain’s tenosynovitis, de Quervain’s stenosing tenosynovitis, mother’s wrist, or mommy thumb. The DQ is a tenosynovitis of the sheath or tunnel that surrounds two tendons that control…
