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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.
Presynaptic symptoms include brief stops in breathing, weakness of the eye, mouth, and throat muscles. These symptoms often result in double vision and difficulty chewing and swallowing. Postsynaptic symptoms in infants include severe muscle weakness, feeding and respiratory problems, and delays in the ability to sit, crawl, and walk.
Finally, myoclonic seizures may occur at a very early age (3 months). [24] CDG Ie (DPM1) at birth the infant will have weakness with involvement of the respiratory system, as well as, severe mental and psychomotor problems.By age of 3, the individual may be blind with speech problems. Microcephaly may occur in early childhood, as well as seizures.
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.
The respiratory evaluations are used to: [8] assess respiratory rate, work required to breath, signs of paradoxical breathing, the shape of the chest wall, and skin perfusion; perform baseline pulmonary studies to establish the extent of restive airway disease and cough efficiency; perform sleep evaluations to assess for sleep-disordered breathing
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Muscle weakness is a lack of muscle strength. Its causes are many and can be divided into conditions that have either 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.
I’ve always been really competitive and athletic, but around 12 or 13 years old, I started to feel deeply fatigued, and I was also having some breathing issues.