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

Variants were considered as heterozygous when present in 20 – 80 % of the reads and as homozygous when present in ≥ 80 % of the reads. [journals.plos.org]

Among the 28 patients, 15 presented mild hypotonia and chronic limb weakness during the neonatal period, with delayed motor milestone in a few cases. [spandidos-publications.com]

Resumo: El desarrollo de las técnicas para el estudio histopatológico de la biopsia muscular ha permitido por primera vez en el país diagnosticar una miopatía nemalínica en una niña de 2 años y 10 meses de edad, portadora de una afección muscular presente [bibliomed.com.br]

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]

• Developmental Delay

  SCAD (Short-chain acyl-CoA dehydrogenase) deficiency; [33] neonatal onset patients had hypotonia, developmental delay, speech delay, myopathy, lethargy, and feeding difficulties. [emedicine.medscape.com]

• Joint Deformity

  Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). [medlineplus.gov]

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

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]

Evaluation and Treatment of Myopathies. Philadelphia: FA Davis Co; 1995. 211-46. Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. [emedicine.medscape.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]

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