The latter is of particular interest in the present context. [books.google.com]

Muscle weakness and contractures can be present early and are progressive. Motor development is delayed and may be limited to rolling from side-to-side. [wohproject.org]

TEST CHARACTERISTICS 2.1 Analytical sensitivity (proportion of positive tests if the genotype is present) 100%. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present) 100%. 2.3 Clinical Sensitivity (proportion of positive [nature.com]

It is present at birth with low muscle tone, shortened muscles which lead to abnormal joints, and tremors. They progress with significant deterioration of the muscles and death occurs within 2 years due to inability to breathe. [thinkgenetic.com]

The present study further investigates the expression and fate of mutant slow TnT in muscle cells. Intact slow TnT mRNA was readily detected in patient muscle, indicating unaffected transcription and RNA splicing. [ncbi.nlm.nih.gov]

• Dysphasia

  Bulbar Function As indicated by the high prevalence of dysphasia (table 1), bulbar function is often impaired in patients with NM. [n.neurology.org]

Treatment: No treatment is available for the primary disease. Prognosis: Death commonly results from respiratory insufficiency in the second year of life. [wohproject.org]

Management and Treatment How is nemaline myopathy treated? Nemaline myopathy treatment focuses on reducing your symptoms. Treatments may include: Continuous positive airway pressure (CPAP) therapy, to help improve breathing during sleep. [my.clevelandclinic.org]

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor) Primary Purpose: Treatment Official Title: Treatment of TNNT1-Myopathy With L-Tyrosine. [clinicaltrials.gov]

DIP ) Pathway : Protein interactions : P13805 Tissue (According to GeneNote, PubMed, HPA ) Tissue expression: PubMed Reference Human Protein Atlas (HPA): CAB015168 Clinical (According to OMIM, PubMed ) OMIM : 191041 PubMed: Early detection Diagnosis Prognosis [actrec.gov.in]

Prognosis: Death commonly results from respiratory insufficiency in the second year of life. [wohproject.org]

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

Prognosis Life expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency. Last updated: 10/10/2011 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

Pathology by systems > Locomotory system > Muscles > nemaline myopathies Synopsis nemaline myopathy nemaline cardiomyopathy Associations radiotherapy ( 14506646 ) Etiology NEM1: autosomal dominant nemaline myopathy (NEM1) (MIM.161800) - mutations in the [humpath.com]

Etiology TNNT1 (19q13.4) is the causative gene of the Amish NM. Genetic counseling Transmission follows an autosomal recessive pattern. Prognosis Life expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency. [rarediseases.info.nih.gov]

Although ten genes have been implicated in the etiology of NM, an important number of patients remain without a molecular diagnosis. [content.iospress.com]

Previous studies of NM examined cohorts with little or no information available about genetic etiology. [n.neurology.org]

As such, consideration for the specific etiology is needed. Additionally, many infants/neonates with congenital myopathy can make improvements in the first few years of life. [emedicine.medscape.com]

Relevant External Links for TNNT1 Genetic Association Database (GAD) TNNT1 Human Genome Epidemiology (HuGE) Navigator TNNT1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TNNT1 No data available for Genatlas for TNNT1 Gene Close physical [genecards.org]

Genealogic epidemiology of inbreeding. Am. J. Epidemiol. 125:453-461. Khoury, MT, B.H. Cohen, E.L. Diamond et al. 1987c. Inbreeding and prereproductive mortality in the Old Order Amish II. Genealogic epidemiology of prereproductive mortality. Am. J. [the-medical-dictionary.com]

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

Epidemiology Frequency The true incidence of congenital myopathies is unknown as no large population-based studies have been conducted. However, there are a varied number of stuidies that demonstrate a relative incidence of the diseases. [emedicine.medscape.com]

[…] severity Most common mutations are NEB (recessive) and ACTA1 (dominant) Terminology Nemaline myopathy (NM), nemaline rod myopathy "Nemaline" means thread-like, describes the appearance of rods ( Semin Pediatr Neurol 2011;18:230 ) Greek nema = thread Pathophysiology [pathologyoutlines.com]

Jin’s main research interest is in gene regulation, structure-function relationship and pathophysiological adaptation of contractile and cytoskeleton proteins. Research in Dr. [obgyn.med.wayne.edu]

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

[…] subtypes: central core and multiminicore myopathy); centronuclear myopathy (subtypes: myotubular myopathy and autosomal centronuclear myopathy); congenital fiber-type disproportion myopathy; myosin storage myopathy; and nonspecific myopathic changes Pathophysiology [emedicine.medscape.com]

Unfortunately for nemaline myopathy, there are barriers that will prevent this exact gene therapy approach from being used. [nemaline.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]

There is no cure for NEM to date, but a number of procedurescould significantly improve the quality of life 1, 15 : Treatment of lower respiratory tract infections Ventilator use for nocturnal hypoxia Special feeding techniques Physical therapy to help prevent [centogene.com]

A feeding tube prevents this from happening. There are a number of different types of feeding tube which are available, and these are fitted by a short surgical procedure. [gofundme.com]