LANDOUZY DEJERINE DYSTROPHY Meaning and
Definition
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Landouzy-Dejerine dystrophy, also known as facioscapulohumeral muscular dystrophy (FSHD), is a genetic neuromuscular disorder characterized by progressive muscle weakness and wasting. This inherited condition primarily affects the muscles in the face, shoulder blades, and upper arms, although it can progressively involve other muscles in the body over time.
FSHD is caused by a mutation in the D4Z4 region of chromosome 4. This mutation leads to a reduction in the number of repeated units in the D4Z4 region, resulting in the abnormal expression of certain genes involved in muscle development and maintenance. The exact mechanisms by which this gene dysfunction causes muscle weakness and atrophy are still not completely understood.
Symptoms of Landouzy-Dejerine dystrophy typically begin in late childhood or early adulthood, though they can manifest at any age. Common signs include weakness in the facial muscles, leading to difficulty in pronouncing words and closing the eyes completely. The shoulder girdle and upper arm muscles gradually weaken, resulting in shoulder instability and difficulty raising the arms. Some individuals may exhibit asymmetrical muscle involvement or foot drop.
Diagnosis of FSHD involves clinical evaluation, genetic testing to detect the mutation in the D4Z4 region, and electromyography to assess muscle activity. While there is currently no cure for this disorder, management focuses on alleviating symptoms and improving quality of life through physical therapy, orthotics, and assistive devices. Regular monitoring and support from a multidisciplinary team of healthcare professionals can help individuals with FSHD cope with the progressive nature of the condition.
Common Misspellings for LANDOUZY DEJERINE DYSTROPHY
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