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]

A rare form of nemaline myopathy known as Amish Nemaline Myopathy has only been seen in a genetically isolated cohort of Old Order Amish patients who may additionally present with tremors in the first 2-3 months of life. [ncbi.nlm.nih.gov]

• Turkish

  Lehtokari VL, Pelin K, Donner K et al : Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Eur J Hum Genet 2008; 16 : 1055–1061. 6. [nature.com]

• Muscle Contracture

  Skeletal muscle α-actin (ACTA1) - NEM3. β-tropomyosin (TPM2) - NEM4. Slow muscle troponin-T (TNNT1) - NEM5. Kelch-repeat and BTB (POZ) Domain containing 13 (KBTBD13) - NEM6. Skeletal muscle cofilin (CFL2) - NEM7. KELCH-like 40 (KLHL40) - NEM8. [nature.com]

• Tremor

  Clinical Characteristics General description (for patients): Amish nemaline myopathy presents in the newborn period with tremors, especially in muscles of the jaw and lower limbs. [wohproject.org]

  In the first months of life, affected infants have tremors with hypotonia and mild contractures of the shoulders and hips. [unboundmedicine.com]

  A rare form of nemaline myopathy known as Amish Nemaline Myopathy has only been seen in a genetically isolated cohort of Old Order Amish patients who may additionally present with tremors in the first 2-3 months of life. [ncbi.nlm.nih.gov]

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

No proven effective therapy other than symptomatic treatment Symptomatic treatment has shown to be helpful in many patients ( Semin Pediatr Neurol 2011;18:230 ) Mechanical nighttime ventilation Orthoses Nasogastric feeding and nutritional support Aggressive [pathologyoutlines.com]

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]

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]

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

Prognosis The outlook for children with central core disease is generally positive. Although they begin life with some developmental delays, many improve as they get older and stay active throughout their lives. [encyclopedia.com]

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]

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]

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]

The early development of joint contractures is characteristic and patients are included in this subgroup if weakness prevents achievement of motor milestones or necessitates use of a wheelchair and/or ventilator support by age 11. [mgz-muenchen.de]