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muscle disease, nerve disease Pseudohypertrophy , or false enlargement, is an increase in the size of an organ due to infiltration of a tissue not normally found in that organ. [ 1 ] It is commonly applied to enlargement of a muscle due to infiltration of fat or connective tissue, [ 2 ] famously in Duchenne muscular dystrophy .
Disease progresses slowly, and lifespan is shortened. Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to skeletal muscle, or muscle degeneration may be paired with effects on the brain and other organ systems. [14]
By definition, all limb girdle muscular dystrophies (LGMD) cause progressive proximal weakness, [3] meaning weakness of the muscles on or close to the torso that worsens over time. Explicitly, LGMD preferentially affects muscles of the hip girdle, thigh, shoulder girdle, and/or upper arm. [8] [6] The muscle weakness is generally symmetric. [11]
Treatment is generally aimed at controlling symptoms to maximize the quality of life which can be measured using specific questionnaires, [36] and include: Corticosteroids such as prednisolone , deflazacort and Vamorolone (Agamree) lead to short-term improvements in muscle strength and function up to 2 years. [ 37 ]
A smaller temporalis muscle can actually indicate sarcopenia, which is the age-related loss of muscle mass and strength. “Systemic sarcopenia “is often linked to frailty, reduced mobility, and ...
According to the CDC, symptoms may include: Fever or chills. Cough. Shortness of breath or difficulty breathing. Sore throat. Congestion or runny nose. New loss of taste or smell. Fatigue. Muscle ...
Bethlem myopathy is a slowly progressive muscle disease characterized predominantly by contractures, rigidity of the spine, skin abnormalities and proximal muscle weakness. [ 5 ] [ 11 ] Symptoms may present as early as infancy, with typical contractures and hyperlaxity of joints; however, in some patients, symptoms may go unnoticed until ...
Glycogen storage diseases that involve skeletal muscle typically have exercise-induced symptoms, such as premature muscle fatigue, rather than fixed weakness symptoms. [46] Differential diagnoses for glycogen storage diseases that involve fixed muscle weakness, particularly of the proximal muscles, would be an inflammatory myopathy or a limb ...