Our report underscores the consideration of contiguous gene deletion in children with ANM who present with congenital hypotonia and cardiomyopathy. [nlm.medscape.idmu.unboundmedicine.unboundmedicine.com]

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]

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]

Definition / general One of the most common non dystrophic congenital myopathies, with a heterogeneous clinical presentation and characteristic rod-like inclusions (nemaline bodies) within myofibers Essential features Skeletal muscle with red to purple [pathologyoutlines.com]

• Pathologist

  Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication [invitae.com]

• Asymptomatic

  Autosomal dominant inheritance was apparent in 41 patients from 22 kindreds, 1 of whom was previously described by Laing and colleagues.10 In 2 families, asymptomatic parents had pathological changes of NM on muscle biopsy. [zdoc.site]

• Failure to Thrive

  […] to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter A #175100 Familial adenomatous polyposis 1 (FAP1) M #614937 Familial Cortical Myoclonus M #615999 Familial dysalbuminemic hyperthyroxinemia A #227645 Fanconi anemia [biochemgenetics.ca]

  The course was progressive with degradation of the hemodynamic and respiratory status, and failure to thrive. The patient deceased at 4.5 months following a septic shock. Autopsy was not performed. [content.iospress.com]

  Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive. [ncbi.nlm.nih.gov]

  A single patient with childhood-onset NM developed achalasia and chronic upper gastrointestinal tract pseudoobstruction in adulthood.10 Few details regarding growth were recorded in most cases, but failure to thrive (height and weight under the third [zdoc.site]

• Heart Disease

  "Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death". American Heart Journal. 54 (1): 59–68. doi:10.1016/0002-8703(57)90079-0. PMID 13435203. ^ Romano C, Gemme G, Pongiglione R (September 1963). [wikipredia.net]

• Myopathic Facies

  They both had smooth dermal ridges, myopathic facies, and bilateral cryptorchidism. [cags.org.ae]

• Foot Drop

  There is a foot drop: difficulty lifting up the front part of the foot, which is often the first sign. Muscle weakness is slow in its progession and may eventually require a wheelchair for mobility. [thinkgenetic.com]

  drop Adult-Onset Nemaline Myopathy (exceptionally rare): variable onset and severity: apparent between 20-50 years of age; rapidly progressing generalized muscle weakness Amish Nemaline Myopathy : identified in several related families within an Amish [patientworthy.com]

  Childhood-onset nemaline myopathy This condition may lead to inability to bend your foot up toward your leg (foot drop). It can progress to inability to move your ankles and lower leg muscles. [my.clevelandclinic.org]

  At 3 years of age, he presented a high-stepping gait with bilateral foot drop, moderate joint contractures, scoliosis and kyphosis convex to the left. At 3 years of age, the nemaline myopathy was confirmed by muscle biopsy. [ijponline.biomedcentral.com]

  Affected individuals may be unable to bend the foot upward toward the leg (foot drop). Eventually the entire ankle and lower legs muscles are involved. In one family with this form of nemaline myopathy, two members required wheelchairs by age 40. [rarediseases.org]

• Dysarthria

  Dysarthria and feeding difficulties are common. Respiratory problems secondary to involvement of the diaphragm and intercostal muscles are common. [egl-eurofins.com]

  Dysarthria and dysphagia are common; deep tendon reflexes are depressed or absent. [mgz-muenchen.de]

  Some infants may have an abnormal waddling walk (gait), swallowing difficulties (dysphagia), speech difficulties (dysarthria), and a nasal tone to the voice. [rarediseases.org]

  Difficulty speaking (dysarthria) and swallowing (dysphagia). Displaced jaw, farther back than normal (retrognathia). Elongated face. Extremely arched roof of the mouth. Nasally speech (velopharyngeal dysfunction). [my.clevelandclinic.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]

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]

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]

Prognosis Life expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency. Visit the Orphanet disease page for more resources. [rareguru.com]

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

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 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]

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. [rareguru.com]

Genetics The understanding of the genetic etiology of NM is continuing evolve. To this date 12 genes have been linked to Nemaline Myopathy (ACTA1, CFL2, KBTBD13, KHLH40, KHLH41, LMOD3, MYBN, NEB, TNNT1, TNNT3, TPM2, TPM3). [childrenshospital.org]

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

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]

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]

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]

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]