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Sporadic late-onset nemaline myopathy, or SLONM, is a very rare disease, one of the nemaline myopathies, causing loss of muscle bulk and weakness in the legs but sparing the cranial nerves, and beginning its clinical course after age 40. [1]
Idiopathic primary BSS is a late-onset myopathy with progressive muscular weakness that is detected on the spinal extensor muscles in elderly patients and is more predominant in females. [2] The pathogenesis of primary BSS is typically related to fibrosis and fatty infiltration of muscular tissues and to mitochondrial changes due to the aging ...
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. The severity of these symptoms varies and can change throughout one's life to some extent.
Life expectancy in non-congenital late-onset or adult onset DM1 is in the early 50s, [5] with pulmonary complications being the leading cause of death, followed by cardiac complications. [27] DM2 life expectancy has yet to be studied.
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. By age 10, the child may need braces and by age 12, most patients are unable to walk. [15]
Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Mutation of many different genes can be causative.
IBM is more common in men than women. [10] Patients may become unable to perform activities of daily living and most require assistive devices within 5 to 10 years of symptom onset. [11] sIBM does not significantly affect life expectancy, [1] although death related to malnutrition and respiratory failure can occur. [12]
Werdnig-Hoffmann disease should not be confused with Hoffmann syndrome, which is a type of adult-onset hypothyroid myopathy.) [18] The eponymous term Kugelberg–Welander disease named after Erik Klas Hendrik Kugelberg (1913–1983) and Lisa Welander (1909–2001), who first documented the late-onset form and distinguished it from muscular ...