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Signs and symptoms are nonspecific and generally related to the blood cytopenias: Anemia (low RBC count or reduced hemoglobin ) – chronic tiredness, shortness of breath, chilled sensation, sometimes chest pain [ 6 ]
DMD: XR: Childhood Distal limbs progressing to generalised weakness, involving respiratory muscles The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting. Clinical symptoms become evident when the child begins walking.
Main symptoms of multiple sclerosis Symptoms and findings in multiple sclerosis. Multiple sclerosis can cause a variety of symptoms varying significantly in severity and progression among individuals: changes in sensation (hypoesthesia), muscle weakness, abnormal muscle spasms, or difficulty moving; difficulties with coordination and balance; problems in speech or swallowing (), visual ...
Dystrophinopathy refers to a spectrum of diseases due to mutations in the DMD gene, which encodes for the dystrophin protein found in muscle. [1] [2] [3] The severe end of the spectrum includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD-associated dilated cardiomyopathy.
According to recent studies, a significant proportion of older adults experience musculoskeletal pain. This pain can be localized (e.g., back pain, knee pain) or widespread (e.g., fibromyalgia). The prevalence tends to increase with age, affecting a substantial portion of the elderly population. [34]
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. [3] [7] [8] The onset of muscle weakness typically begins around age four, with rapid progression. [2] Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, [3] which can lead to difficulties in standing up. [3]
The symptoms of Bethlem myopathy may overlap with other conditions including Emery–Dreifuss muscular dystrophy, congenital muscular dystrophies, limb girdle muscular dystrophies, FHL1-related myopathies (X-linked myopathy with postural muscle atrophy, reducing body myopathy, and scapuloperoneal myopathy), and some forms of Ehlers–Danlos ...
Facioscapulohumeral 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.