What is a Parkinsonism? → Parkinsonism is a clinical syndrome characterized by tremors, bradykinesia, rigidity, and postural instability.→ Parkinsonism is any condition that causes a combination of the movement abnormalities seen in Parkinson’s disease — such as tremors, slow movement, impaired speech, or muscle stiffness — especially resulting from the loss of dopamine-containing nerve cells…
INTRODUCTION: Acute transverse myelitis is acute inflammation of gray and white matter in one or more adjacent spinal cord segments, usually thoracic. Causes include multiple sclerosis, neuromyelitis optica, infections, autoimmune or postinfectious inflammation, vasculitis, and certain drugs The inflammation damages nerve fibers, and causes them to lose their myelin coating leading to decreased electrical conductivity…
Introduction: → Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be autosomal dominant neuromuscular disease or autosomal recessive. OPMD is a group of genetic, degenerative diseases primarily affecting voluntary muscles.It affects first — the eyelids (oculo) and…
Introduction: → Myotonic muscular dystrophy is a long term genetic disorder that affects muscle function.Myotonic dystrophy is an autosomal-dominant disorder which is typically inherited from a person’s parents.There are two main types: type 1 (DM1) due to mutations in the DMPK gene and type 2 (DM2) due to mutations in the CNBP gene. Causes of…
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…
