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Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder [1] which damages muscle and nerve cells throughout the body.
Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability.
Polymyalgia rheumatica (or "muscle rheumatism") is an inflammatory condition that mainly occurs in the elderly; it is associated with giant-cell arteritis (It often responds to prednisolone). [18] Polymyositis is an autoimmune condition in which the muscle is affected. [19] Rhabdomyolysis is the breakdown of muscular tissue due to any cause ...
Inclusion body myositis (IBM) (/ m aɪ oʊ ˈ s aɪ t ɪ s /) (sometimes called sporadic inclusion body myositis, sIBM) is the most common inflammatory muscle disease in older adults. [2] The disease is characterized by slowly progressive weakness and wasting of both proximal muscles (located on or close to the torso ) and distal muscles (close ...
More than 110,000 people in the UK are thought to have muscle-wasting conditions.
Camptocormia, also known as bent spine syndrome (BSS), is a symptom of a multitude of diseases that is most commonly seen in the elderly. It is identified by an abnormal thoracolumbar spinal flexion, which is a forward bending of the lower joints of the spine, occurring in a standing position.
MMT is used to evaluate muscular strength, whereas goniometry or ROM tests measure movement around a joint. These tests indicate need for intervention such as passive and active ROM, strengthening and splinting. Passive ROM combined with the use of night splints can significantly improve tendo-Achilles contractures. [4]
The UK National Screening Committee, meanwhile, is considering reviewing the case for introducing SMA screening as part of the newborn blood spot screening programme, with pilot studies underway.