Case presentation The affected newborn has no spontaneous movement, fractures at birth and respiratory insufficiency. The present case was a Thai male, floppy at birth with fractures of both humeri and femurs and ventilator-dependent respiration. [diagnosticpathology.biomedcentral.com]

Myopathies typically present with weakness of the proximal muscles such as the shoulders and hips. Some present with easy fatigue. Patients may complain of difficulty climbing stairs or fixing their hair in the morning. [hickoryneurology.net]

Presentation is in childhood or adolescence usually with malignant hyperthermia. Non-progressive mild proximal weakness may be present. [emedicine.medscape.com]

However, less than half of the muscle histology results of suspected NM cases present with nemaline bodies (5, 11), and WES cannot be performed for all fetuses. [frontiersin.org]

Some patients with nemaline myopathy present at or shortly after birth (congenital onset). Less often, the disorder may develop during childhood or even more uncommonly in adulthood. [rarediseases.org]

The treatment will vary depending on the underlying cause of the myopathy. Hypokalemic periodic paralysis: [hickoryneurology.net]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]

Standard Therapies Treatment No specific treatment exists for nemaline myopathy. Treatment is supportive and directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

They continue to work to understand the molecular basis of this disease and to investigate potential treatments. See Research. [mda.org]

Despite the symptomatic treatment with ventilator support, intercostal drainage and parenteral nutrition, the patient still suffered from respiratory insufficiency and finally died at the age of 6 weeks. [diagnosticpathology.biomedcentral.com]

Fetal NM is a severe form of NM that carries a poor prognosis. [frontiersin.org]

Neonatal onset PPL without additional anomalies is now compatible with life and has a good prognosis in the ventilator era of neonatal intensive care [12]. [diagnosticpathology.biomedcentral.com]

Three of these patients displayed rapid clinical progression and acute respiratory insufficiency, while their prognosis was poor. [spandidos-publications.com]

Currently, the prognosis is poor with 54%–65% of patients dying before 18 months of age. [48, 49] Additionally, 90% required ventilatory support at birth. [emedicine.medscape.com]

Our case represents the third example of severe congenital NM with chylothorax to be documented in the literature [6,7], however, the etiology of chylothorax in those two cases has yet to be established. [diagnosticpathology.biomedcentral.com]

In China, only a few NM cases were reported, and related epidemiological data have not yet become available. [spandidos-publications.com]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]

Genetic analyses are necessary to further investigate the pathophysiology of the observed clinical and pathological features of these patients. [spandidos-publications.com]

Exome sequencing and histology can be performed in parallel and the results need to be evaluated by specialized diagnostic centers and associated research laboratories with an expertise on the underlying pathophysiological mechanisms. [journals.plos.org]

Such therapy is aimed at preserving muscle strength and function and to prevent the development of contractures. In addition, respiratory support may be necessary, potentially including mechanical ventilation to prevent nocturnal hypoventilation. [rarediseases.org]