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Due to throat muscle weakness, approximately 30% of those affected have difficulty swallowing. Dilated cardiomyopathy is a rare complication of this condition. [2] Other symptoms include congenital nonprogressive hypotonia and weakness, kyphoscoliosis, high-arched palate, dislocated hips, short stature, and feet deformities. [1]
It is characterized by generalized muscle weakness and low muscle tone. In its severest form, affected babies often die from respiratory failure. [6] To date, 9 gene mutations have been found to cause nemaline myopathy. 6 of the identified genes are associated with the actin filament, which is the basis for muscle contraction.
Weakness is a symptom of many different medical conditions. [1] The causes are many and can be divided into conditions that have true or perceived muscle weakness. True muscle weakness is a primary symptom of a variety of skeletal muscle diseases, including muscular dystrophy and inflammatory myopathy .
Initially, most patients experience generalized weakness during the first days and are bedridden for some days or weeks before trying to walk. Occasional blurred vision and/or speech difficulties typically clear during the first month, except in severely affected patients.
Sengers syndrome is a rare autosomal recessive mitochondrial disease characterised by congenital cataract, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. [3] Biallelic pathogenic mutations in the AGK gene, which encodes the acylglycerol kinase enzyme , cause Sengers syndrome. [ 2 ]
Gowers's sign is a medical sign that indicates weakness of the proximal muscles, namely those of the lower limb. The sign describes a patient that has to use their hands and arms to "walk" up their own body from a squatting position due to lack of hip and thigh muscle strength. It is named after William Richard Gowers. [1] [2]
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