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Myofibrillar Myopathy 4

ZASP-Related Myofibrillar Myopathy


Presentation

  • His research focuses on understanding the variation in the clinical presentations of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) and finding biomarkers for them.[books.google.com]
  • Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved.[orpha.net]
  • Peripheral neuropathy or cardiomyopathy may also be present. Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood.[diseaseinfosearch.org]
  • In reality this complex brain disorder presents an endless variety of psychotic and non-psychotic symptoms.[brain.oxfordjournals.org]
  • The most common type of nemaline rod myopathy presents in the infantile stage with 42% of patients presenting in the neonatal period. [6] While there has been an association with polyhydramnios, decreased fetal movements, and an abnormal fetal presentation[emedicine.medscape.com]
Pathologist
  • […] evaluate muscle disorders with confidence "Overall, this is a well written and comprehensive textbook of muscle pathology that will be of invaluable assistance to laboratories reporting muscle pathology" Reviewed by The Bulletin of The Royal College of Pathologists[books.google.de]
  • University of Washington, Seattle; Available from: PMID: 20301672 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic[invitae.com]
  • PMID: 25208129 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[invitae.com]
Italian
  • Pasqualina D’Ursi, Silvia Erratico, Riccardo Cristofani, Luciano Milanesi, Daniele Braga, Daniele Cusi, Angelo Poletti, Cristina Barlassina and Yvan Torrente, Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian[doi.org]
Hoarseness
  • Young Se Hyun, Sumaria Kanwal, Sun Wha Park, Heasoo Koo, Sang‐Beom Kim, Young‐Chul Choi, Jeong Hyun Yoo, Jong‐Won Kim, Kee Duk Park, Kyoung‐Gyu Choi, Song Ja Kim, Stephan Züchner and Ki Wha Chung, A complex phenotype of peripheral neuropathy, myopathy, hoarseness[doi.org]
Long Arm
  • Mutations in genes DES, located on the long arm of chromosome 2 (2q35), Myot located on the long arm of chromosome 5 (5q31) and LDB3 located on the long arm of chromosome 10 (10q22.3 - q23.2 ) they are responsible for most cases.[ivami.com]
Muscle Cramp
  • In particular, a muscle biopsy is indicated in patients with suspected skeletal muscle disease who present with unexplained weakness, muscle cramps or pain, elevated CPK levels, or myoglobinuria… Nerve pathology overview Nerve biopsy can identify potentially[therapath.com]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Victor Dubowitz, who skillfully guides you through the complexities of pathologic diagnoses and their implications for clinical treatment.[books.google.de]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • […] abnormal bone formation, but there is no cure following onset Central core disease: no treatment Nemaline myopathy: no treatment Centronuclear (myotubular) myopathy: no treatment Paramyotonia congenita: treatment often unnecessary Myotonia congenita:[medical-dictionary.thefreedictionary.com]
  • At present there is no curative treatment for individuals suffering from myofibrillar myopathy. Treatment is aimed at alleviating the symptoms; strengthen muscle power so that patient can live comfortable life.[tandurust.com]

Prognosis

  • Treatment [ edit ] There is currently no cure for the disease but treatments to help the symptoms are available. [3] Prognosis [ edit ] Prognosis strongly depends on which subtype of disease it is.[en.wikipedia.org]
  • Prognosis The prognosis for patients with myopathy depends on the type and severity of the individual disease. In most cases, the myopathy can be successfully treated and the patient returned to normal life.[medical-dictionary.thefreedictionary.com]
  • […] the condition, then genetic counseling will help assess risks, before planning for a child Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders What is the Prognosis[dovemed.com]
  • His mother refuses to ask for a prognosis, but she is thinking about applying for a Make-A-Wish trip. "He knows it is bad," she said. "He knows that it's not reversible." The disorder has spread, and there is no sign that it is slowing.[freep.com]
  • Prognosis Myofibrillar myopathies are among a large group of related but distinct diseases. In general, it is expected that there will be slow progression of weakness, which worsens in affected muscles, then spreads, and progresses with time.[encyclopedia.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Abstract Restrictive cardiomyopathies in the pediatric population have diverse etiologies, including storage diseases like hemosiderosis, glycogenoses and desmin with its associated proteins.[ijpmonline.org]
  • (Etiology) Myofibrillar Myopathy could occur as a result of inherited gene mutations, or spontaneously in individuals with no known family members affected by the disorder.[dovemed.com]
  • Myofibrillar myopathies (MFMs) are a group of myopathies that share common morphological findings but have different molecular etiologies [ 6, 7 ].[actaneurocomms.biomedcentral.com]
  • Michael V Zaragoza, Eloisa Arbustini and Jagat Narula, Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology, Current Opinion in Pediatrics, 10.1097/MOP.0b013e3282f1ecbc, 19, 6, (619-627), (2007). JEFFREY A.[doi.org]

Epidemiology

  • Relevant External Links for MYOT Genetic Association Database (GAD) MYOT Human Genome Epidemiology (HuGE) Navigator MYOT Atlas of Genetics and Cytogenetics in Oncology and Haematology: MYOT No data available for Genatlas for MYOT Gene Myotilin, a novel[genecards.org]
  • Epidemiology: Worldwide: Incidence:6 per 100,000 live births or 1/10th of all neuromuscular disorders.[slideshare.net]
Sex distribution
Age distribution

Pathophysiology

  • This form has a wide range of symptoms and varies depending on the mutation made. [3] Pathophysiology [ edit ] The sarcomeres become misaligned and result in the disorganization of muscle fibers. [1] This mutation also results in muscle cell death by[en.wikipedia.org]

Prevention

  • This protein may have an important role to prevent the formation of intermediate filaments, in which formation mechanism involved other proteins such as desmin. Mutations in the gene CRYAB, give rise to type 2 myofibrillar myopathy (MFM2).[ivami.com]
  • Not only did this mean the aggregates were not removed but the other pathways were prevented from taking over.[medicalxpress.com]
  • There could also be associated pain and cramping of the muscles Treatment for Myofibrillar Myopathy is usually geared towards tackling the symptoms and making the individual feel comfortable Myofibrillar Myopathy is not a preventable condition; however[dovemed.com]
  • This condition enlarges (dilates) and weakens the cardiac muscle, preventing it from pumping blood efficiently.[ghr.nlm.nih.gov]
  • The goal is to prevent deformity and allow the patient to function as independently as possible.[encyclopedia.com]

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