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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.
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 ...
Some GSDs and a mitochondrial myopathy are known to have a pseudoathletic appearance. McArdle disease (GSD-V) and late-onset Pompe disease (GSD-II) are known to have hypertrophy, particularly of the calf muscles. [14] [15] Cori/Forbes disease (GSD-III) is known to have hypertrophy of the sternocleidomastoid, trapezius, quadriceps, and thigh ...
The phenotypic presentation has 3 forms: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). [3] Individuals with glutaric acidemia type 2 frequently experience exercise-induced muscle fatigue, hypotonia, myalgia, and proximal muscle weakness. [4]
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] The risk of serious injury due to falls is increased. [1]
Autosomal Dominant inheritance shows a later onset and slower progression. It usually involves only one or two of the muscle tissues. [3] De novo diseases occur when a new mutation arises in the person that was not inherited through either parent. This form has a wide range of symptoms and varies depending on the mutation made. [3]
[9] [10] Babies of mothers with myasthenia may have symptoms during their first few months of life, known as neonatal myasthenia [1] or more specifically transient neonatal myasthenia gravis. [11] Diagnosis can be supported by blood tests for specific antibodies, the edrophonium test, electromyography (EMG), or a nerve conduction study. [1]
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