Symptoma

Nemaline Myopathy Type 5

Nemaline Rod Myopathy Type 5

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]

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]

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]

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

  • Death in Childhood

    The nonsense mutation described in ANM results in a truncated TnT gene product, absence of TnT from slow skeletal muscle fibers, and progressive weakness with death in childhood. [n.neurology.org]

  • 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]

  • Ptosis

    Exam showed ptosis and facial weakness as well as marked proximal and distal limb weakness. She was non-ambulatory but did not require ventilatory support during daytime or sleep. EMG was viewed as myopathic, and CK was low-normal. [n.neurology.org]

    Clinical features : Muscle weakness, usually slowly progressive, is most severe in proximal limb, facial, and respiratory muscles, often accompanied by ptosis. [mgz-muenchen.de]

    […] dominant Deterioration of ability to run/walk Muscle weakness is generally symmetric LMNA gene CAV3 gene N/A Myopathic Myotonic dystrophy [18] & distal Myotonia Cataracts Diabetes mellitus Frontal balding Cardiac arrhythmias Cholecystitis Pregnancy Eyelid ptosis [wikidoc.org]

  • Flexion Contracture

    […] myopathic abnormalities 0003458 Hip contracture 0003273 Motor delay 0001270 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Pectus carinatum Pigeon chest 0000768 Progressive muscle weakness 0003323 Proximal amyotrophy 0007126 Shoulder flexion [rarediseases.info.nih.gov]

    Most common symptoms of NEMALINE MYOPATHY 5; NEM5 Autosomal recessive inheritance Motor delay Myopathy Flexion contracture Skeletal muscle atrophy More info about NEMALINE MYOPATHY 5; NEM5 SOURCES: MONDO OMIM ORPHANET GARD MESH UMLS DOID Potential gene [mendelian.co]

  • Muscle Contracture

    contractures, most probably because of the hypercontractility caused by the mutant protein in nemaline myopathy and/or core-rod myopathy patients. 21 TNNT1 : a recessive nonsense founder variant is present in the Old Order Amish population. [nature.com]

  • Long Arm

    As of 2004, genetic testing was available on a clinical basis for one gene, the ACTA1 gene located on the long arm of chromosome 1. About 15% of NM cases are due to mutations in this gene. [encyclopedia.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]

    Fogel Elsevier Health Sciences, ٠٦‏/١١‏/٢٠١٣ - 281 من الصفحات 0 مراجعات This issue of Neurologic Clinics features a review of clinical neurogenetics as it pertains to the following disorders: Huntington Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome [books.google.com]

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]

Walsh, along with a multi-disciplinary team of contributors guide you through the sweeping developments in diagnosis and treatment of the mother fetus, and neonate. [books.google.com]

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

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]

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]

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]

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]

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 tropomyosin [humpath.com]

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]

[…] and 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]