Muscular dystrophy (MD)

An inherited disorder that affects skeletal muscle structures when muscle cells are progressively destroyed and replaced with fat tissue.


A genetic disease caused by a defect in the X chromosome; first recognized by G. A. B. Duchenne in 1858. Afflicts males almost exclusively because males have only one X chromosome, whereas females inherit two copies of the X chromosome and have a backup in case one X chromosome is damaged (as is the case for MD victims). In 1981, Kay E. Davies used DNA probes (genetic probes) to discover that the Duchenne muscular dystrophy (DMD) gene must lie somewhere between two unique (to MD victims) segments on the upper, shorter arm of the X chromosome.


A genetic defect affecting the muscles and nerves.


A type of muscle disease where some muscles become weak and are replaced with fatty tissue.


An inherited disorder characterized by a gradual muscle wasting and loss.


Not a single disease but a group of relatively rare diseases, mostly appearing during childhood and adolescence, that result from muscle destruction or degeneration, with fatty tissue often replacing the wasted (atrophied) muscle. MD is a group of genetic disorders apparently resulting from abnormality in production of key proteins. It can be diagnosed by medical tests for certain substances released from damaged muscle cells; by an electromyogram, which detects electrical activity in muscles; or by a biopsy (tissue sample). The forms of MD vary in their inheritance pattern, age of onset, muscles initially affected, and rate of progression.


Any of a group of hereditary diseases of the muscular system characterized by weakness and wasting of groups of skeletal muscles, leading to increasing disability. The various forms differ in age of onset, rate of progression, and mode of genetic transmission; the most common is Duchenne’s muscular dystrophy.


A hereditary disease that causes progressive weakness and wasting of muscle tissue.


A group of genetic diseases characterized by progressive muscle weakness and loss of muscle tissue, particularly of the muscles used to control movement. There are nine major forms of muscular dystrophy (MD). The type called Duchenne MD is the most common and most devastating and usually affects children, while the myotonic form most often occurs in adults.


Any one of a group of muscle diseases in which there is a recognizable pattern of inheritance. They are marked by weakness and wasting of selected muscles: the affected muscle fibers degenerate and are replaced by fatty tissue. The muscular dystrophies are classified according to the patient’s age at onset, distribution of the weakness, the progression of the disease, and the mode of inheritance. Confirmation of the diagnosis is based upon electromyography and muscle biopsy.


One of nine distinct genetic syndromes that affect muscular strength and action, some of which first become obvious in infancy, and others of which develop in adolescence or young adulthood. The syndromes are marked by either generalized or localized muscle weakness, difficulties with walking or maintaining posture, muscle spasms, and in some instances, neurological, behavioral, cardiac, or other functional limitations.


An inherited condition in which the muscles gradually become weaker because the muscle fibers are slowly destroyed.


Muscular dystrophy represents a collection of genetic disorders marked by the gradual degeneration and weakening of the muscles over time. These inherited conditions are characterized by progressive muscle wasting, leading to a decline in muscle strength and functionality.


These are uncommon hereditary muscle conditions that result in gradual and progressive deterioration of muscle fibers. This decline can potentially result in disability and ultimately mortality.


Duchenne muscular dystrophy is the most prevalent and serious type of muscular dystrophy. It results from a faulty gene on the X chromosome, which is recessive. Since boys possess only one X chromosome, they develop the disease if they receive this defective gene from their mother. While girls, having two X chromosomes, don’t manifest the disease, they can become carriers of the flawed gene.


Boys with this condition often have a waddling gait, struggle with climbing, and might develop a curved spine. The disease progresses quickly, leading most to lose the ability to walk by age 12. Unfortunately, many don’t live past their teens.


Becker’s muscular dystrophy manifests later in childhood and evolves more gradually. Myotonic dystrophy targets the muscles of the hands, face, neck, and feet and can also lead to learning challenges. Limb-girdle muscular dystrophy primarily impacts the hip and shoulder muscles. Meanwhile, facioscapulohumeral muscular dystrophy affects the muscles in the upper arms, around the shoulders, and the face. In this latter type, serious disability is uncommon.


A diagnosis for Duchenne muscular dystrophy can be determined through gene testing even before symptoms appear. After muscle weakness sets in, additional tests, such as measuring muscle enzymes and conducting an EMG, can be employed.


Currently, there’s no cure, with physiotherapy being the primary treatment method. Staying active helps maintain the health of unaffected muscles. In certain cases, surgery on the heel tendons can improve walking.


The long-term prognosis varies based on the specific type of muscular dystrophy. Families with a member diagnosed with any form of this condition might contemplate seeking genetic counseling.


A hereditary disease with an uncertain origin typically emerges in one’s 30s or 40s. It is marked by a unique pattern of muscle atrophy, different from any other known condition. Additionally, there’s a distinct challenge in relaxing the muscles after exertion, a characteristic that distinguishes it from all other types of muscle degeneration.


 


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