Duchenne muscular dystrophy in the context of "Muscular dystrophy"

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⭐ Core Definition: Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up. By the age of 12, most individuals with Duchenne muscular dystrophy are unable to walk. Affected muscles may appear larger due to an increase in fat content, and scoliosis is common. Some individuals may experience intellectual disability, and females carrying a single copy of the mutated gene may show mild symptoms.

Duchenne muscular dystrophy is caused by mutations or deletions in any of the 79 exons encoding the large dystrophin protein, which is essential for maintaining the muscle fibers' cell membrane integrity. The disorder follows an X-linked recessive inheritance pattern, with approximately two-thirds of cases inherited from the mother and one-third resulting from a new mutation. Diagnosis can frequently be made at birth through genetic testing, and elevated creatine kinase levels in the blood are indicative of the condition.

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👉 Duchenne muscular dystrophy in the context of Muscular dystrophy

Muscular dystrophy (MD) is 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. Of those, Duchenne muscular dystrophy (DMD) accounts for approximately 50% of cases and affects males beginning around the age of four. Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, whereas limb–girdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually extremely rare – genetic disorders.

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Duchenne muscular dystrophy in the context of Guillaume Duchenne de Boulogne

Guillaume-Benjamin-Amand Duchenne (de Boulogne) (September 17, 1806, in Boulogne-sur-Mer – September 15, 1875, in Paris) was a French neurologist who revived Luigi Galvani's research and greatly advanced the science of electrophysiology. The era of modern neurology developed from Duchenne's understanding of neural pathways and his diagnostic innovations including deep tissue biopsy, nerve conduction tests (NCS), and clinical photography. This extraordinary range of activities (mostly in the Salpêtrière) was achieved against the background of a troubled personal life and a generally indifferent medical and scientific establishment.

Neurology did not exist in France before Duchenne and although many medical historians regard Jean-Martin Charcot as the father of the discipline, Charcot owed much to Duchenne, often acknowledging him as "mon maître en neurologie" (my master in neurology). The American neurologist Joseph Collins (1866–1950) wrote that Duchenne found neurology "a sprawling infant of unknown parentage which he succored to a lusty youth."His greatest contributions were made in the myopathies that came to immortalize his name, Duchenne muscular dystrophy, Duchenne-Aran spinal muscular atrophy, Duchenne-Erb paralysis, Duchenne's disease (Tabes dorsalis), and Duchenne's paralysis (progressive bulbar palsy). He was the first clinician to practise muscle biopsy, with an invention he called "l'emporte-pièce" (Duchenne's trocar). In 1855, he formalized the diagnostic principles of electrophysiology and introduced electrotherapy in a textbook titled De l'electrisation localisée et de son application à la physiologie, à la pathologie et à la thérapeutique. A companion atlas to this work, the Album de photographies pathologiques, was the first neurology text illustrated by photographs. Duchenne's monograph, the Mécanisme de la physionomie humaine – also illustrated prominently by his photographs – was the first study on the physiology of emotion and was highly influential on Darwin's work on human evolution and emotional expression.

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LINKED FROM (PARENTS)
← Guillaume Duchenne de Boulogne ← Muscular dystrophy
LINKS TO (CHILDREN)
Muscular dystrophy → Muscle weakness → Muscle loss → Pelvis → Adipose tissue → Scoliosis → Intellectual disability → Exon → Dystrophin → Protein → Cell membrane → X-linked recessive inheritance → Heredity → Mutation → Genetic testing → Creatine kinase → Blood →