Muscular dystrophyMuscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs. Over 30 different disorders are classified as muscular dystrophies.
Charcot–Marie–Tooth diseaseCharcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925).
Neuromuscular diseaseA neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal muscle, all of which are components of the motor unit. Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or genetic. Mutations of more than 500 genes have shown to be causes of neuromuscular diseases.
Duchenne muscular dystrophyDuchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms.
Limb–girdle muscular dystrophyLimb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. LGMD usually has an autosomal pattern of inheritance. It currently has no known cure or treatment. LGMD may be triggered or worsened in genetically susceptible individuals by statins, because of their effects on HMG-CoA reductase By definition, all limb girdle muscular dystrophies (LGMD) cause progressive proximal weakness, meaning weakness of the muscles on or close to the torso that worsens over time.
Neuromuscular medicineNeuromuscular medicine is a subspecialty of neurology and physiatry that focuses the diagnosis and management of neuromuscular diseases. The field encompasses issues related to both diagnosis and management of these conditions, including rehabilitation interventions to optimize the quality of life of individuals with these conditions. This field encompasses disorders that impact both adults and children and which can be inherited or acquired, typically from an autoimmune disease.
OrthoticsOrthotics (Ορθός) is a medical specialty that focuses on the design and application of orthoses, or braces. An is "an externally applied device used to influence the structural and functional characteristics of the neuromuscular and skeletal systems." Orthotists are professionals who specialize in designing these braces. Orthotic devices are classified into four areas of the body according to the international classification system (ICS): orthotics of the lower extremities, orthotics of the upper extremities, orthotics for the trunk, and orthotics for the head.
Assisted livingAn assisted living residence or assisted living facility (ALF) is a housing facility for people with disabilities or for adults who cannot or who choose not to live independently. The term is popular in the United States, but the setting is similar to a retirement home, in the sense that facilities provide a group living environment and typically cater to an older adult population. There is also Caribbean assisted living, which offers a similar service in a resort-like environment (somewhat like assisted vacationing).
Activities of daily livingActivities of daily living (ADLs or ADL) is a term used in healthcare to refer to people's daily self-care activities. Health professionals often use a person's ability or inability to perform ADLs as a measurement of their functional status. The concept of ADLs was originally proposed in the 1950s by Sidney Katz and his team at the Benjamin Rose Hospital in Cleveland, Ohio. The concept of ADLs has been added to and refined by a variety of researchers since that time. For example, many indexes that assess ADLs now include some measure of mobility.
Spinal cord injuryA spinal cord injury (SCI) is damage to the spinal cord that causes temporary or permanent changes in its function. Symptoms may include loss of muscle function, sensation, or autonomic function in the parts of the body served by the spinal cord below the level of the injury. Injury can occur at any level of the spinal cord and can be complete, with a total loss of sensation and muscle function at lower sacral segments, or incomplete, meaning some nervous signals are able to travel past the injured area of the cord up to the Sacral S4-5 spinal cord segments.
JointA joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole. They are constructed to allow for different degrees and types of movement. Some joints, such as the knee, elbow, and shoulder, are self-lubricating, almost frictionless, and are able to withstand compression and maintain heavy loads while still executing smooth and precise movements.
Automatic transmissionAn automatic transmission (sometimes abbreviated AT) is a multi-speed transmission used in motor vehicles that does not require any input from the driver to change forward gears under normal driving conditions. The most common type of automatic transmission is the hydraulic automatic, which uses a planetary gearset, hydraulic controls, and a torque converter. Other types of automatic transmissions include continuously variable transmissions (CVT), automated manual transmissions (AMT), and dual-clutch transmissions (DCT).
Neuromuscular junctionA neuromuscular junction (or myoneural junction) is a chemical synapse between a motor neuron and a muscle fiber. It allows the motor neuron to transmit a signal to the muscle fiber, causing muscle contraction. Muscles require innervation to function—and even just to maintain muscle tone, avoiding atrophy. In the neuromuscular system nerves from the central nervous system and the peripheral nervous system are linked and work together with muscles.
Spinal cord injury researchSpinal cord injury research seeks new ways to cure or treat spinal cord injury in order to lessen the debilitating effects of the injury in the short or long term. There is no cure for SCI, and current treatments are mostly focused on spinal cord injury rehabilitation and management of the secondary effects of the condition. Two major areas of research include neuroprotection, ways to prevent damage to cells caused by biological processes that take place in the body after the injury, and neuroregeneration, regrowing or replacing damaged neural circuits.
Anatomical terms of motionMotion, the process of movement, is described using specific anatomical terms. Motion includes movement of organs, joints, limbs, and specific sections of the body. The terminology used describes this motion according to its direction relative to the anatomical position of the body parts involved. Anatomists and others use a unified set of terms to describe most of the movements, although other, more specialized terms are necessary for describing unique movements such as those of the hands, feet, and eyes.
Becker muscular dystrophyBecker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, but has a milder course.
KneeIn humans and other primates, the knee joins the thigh with the leg and consists of two joints: one between the femur and tibia (tibiofemoral joint), and one between the femur and patella (patellofemoral joint). It is the largest joint in the human body. The knee is a modified hinge joint, which permits flexion and extension as well as slight internal and external rotation. The knee is vulnerable to injury and to the development of osteoarthritis. It is often termed a compound joint having tibiofemoral and patellofemoral components.
PulleyA pulley is a wheel on an axle or shaft that is designed to support movement and change of direction of a taut cable or belt, or transfer of power between the shaft and the cable or belt. In case of a pulley supported by a frame or shell that does not transfer power to a shaft, but is used to guide the cable or exert a force, the supporting shell is called a block, and the pulley may be called a sheave or pulley wheel. A pulley may have a groove or grooves between flanges around its circumference to locate the cable or belt.
Assistive technologyAssistive technology (AT) is a term for assistive, adaptive, and rehabilitative devices for people with disabilities and the elderly. Disabled people often have difficulty performing activities of daily living (ADLs) independently, or even with assistance. ADLs are self-care activities that include toileting, mobility (ambulation), eating, bathing, dressing, grooming, and personal device care. Assistive technology can ameliorate the effects of disabilities that limit the ability to perform ADLs.
Facioscapulohumeral muscular dystrophyFacioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm. These areas can be spared, and muscles of other areas usually are affected, especially those of the chest, spine, abdomen, and shin. Almost any skeletal muscle can be affected in severe disease.
