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Tubular Aggregate Myopathy


Presentation

  • Basophilic accumulations, which stained intensely with the NADH-TR reaction, were present in both fibre types. Electron microscopy revealed that these consisted of tightly packed parallel tubular arrays.[ncbi.nlm.nih.gov]
  • We report the case of a man who presented with AHRF secondary to tubular aggregate myopathy.[ncbi.nlm.nih.gov]
  • Myopathies in which tubular aggregates are the defining feature are rare and either present with progressive muscle weakness or exercise induced myalgia.[ncbi.nlm.nih.gov]
  • The major pathological feature was the presence of tubular aggregates, believed to arise from the sarcoplasmic reticulum, which are present in skeletal muscles only.[ncbi.nlm.nih.gov]
  • We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness.[ncbi.nlm.nih.gov]
Asymptomatic
  • All patients had a mild, late onset TAM revealed by asymptomatic creatine kinase (CK) elevation and congenital miosis consistent with a Stormorken-like Syndrome, in the absence of thrombocytopathy.[ncbi.nlm.nih.gov]
  • […] tubular aggregates in 1991, but the reasons why were unclear. [11] Last updated: 12/28/2016 The symptoms and severity of tubular aggregate myopathy (TAM) can vary from person to person, even within the same family. [2] [4] Some individuals may even appear asymptomatic[rarediseases.info.nih.gov]
  • The different distribution patterns shown by variations in the intensity and severity of muscle involvement may help to achieve differential diagnosis, to identify asymptomatic subjects and to follow up myopathic patients [2] – [7].[journals.plos.org]
Episodic Weakness
  • Chapter First Online: 27 June 2014 Abstract This form of congenital myopathy is characterized by slowly progressive weakness without atrophy, myalgia, cramps, or episodic weakness and by muscle biopsy showing 60–90 % of fibers containing tubular aggregates[link.springer.com]
  • Chapter First Online: 06 October 2017 Abstract This form of congenital myopathy is characterized by slowly progressive weakness without atrophy, myalgia, cramps, or episodic weakness and by muscle biopsy showing 60–90% of fibers containing tubular aggregates[link.springer.com]
Collapse
  • There is one recent report of respiratory collapse secondary to TAM; this is only one case in 30 years, rarity upon rarity and not a worry.[braintalkcommunities.org]
Family History of Arthritis
  • Tubular aggregates have also been described in mouse models of autoimmune connective tissue diseases 20 and have been described rarely in polymyositis in humans. 21 Although our patient had a family history of arthritis, he had no clinical, biochemical[jnnp.bmj.com]
Saddle Nose
  • Examination General physical examination revealed a tall man (1.96 m) with a mild saddle nose deformity and pectus excavatum (fig 1). There were no clinical features of a connective tissue disease.[jnnp.bmj.com]
Miosis
  • We present three members of an Italian family affected by tubular aggregate myopathy (TAM) and congenital miosis harboring a novel missense mutation in ORAI1.[ncbi.nlm.nih.gov]
  • Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic disease associating TAM with asplenia, thrombocytopenia, miosis, ichthyosis,[ncbi.nlm.nih.gov]
  • 20 January 2017 This paper described three members of an Italian family affected by tubular aggregate myopathy (TAM) and congenital miosis harboring a novel missense mutation in ORAI1.[institut-myologie.org]
  • […] genetics Miosis/metabolism Muscle Fatigue/genetics Mutation, Missense* Myopathies, Structural, Congenital/genetics* Myopathies, Structural, Congenital/metabolism Neoplasm Proteins/genetics Neoplasm Proteins/metabolism ORAI1 Protein/genetics* ORAI1 Protein[ncbi.nlm.nih.gov]
  • Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. doi: 10.1073/pnas.1312520111. Epub 2014 Mar 3.[ghr.nlm.nih.gov]
Pupillary Abnormality
  • The combination of pupillary abnormalities and TAs suggests that mitochondrial dysfunction may not explain the full extent of abnormalities in this case.[collections.lib.utah.edu]
  • abnormalities Pupillary abnormality [5] The STIM1 gene gives the body instructions to make a protein involved in controlling when calcium ions enter cells.[rarediseases.info.nih.gov]
Proximal Muscle Weakness
  • Clinical examination showed short stature, scoliosis, proximal muscle weakness with lower limb predominance, and ophthalmoplegia. Laboratory tests revealed hypocalcemia, mild anemia and elevated creatine kinase (CK) levels.[ncbi.nlm.nih.gov]
Winged Scapula
  • (B) The patient exhibits winged scapulae due to atrophy of the paraspinal muscles.[ng.neurology.org]
Dyslexia
  • […] in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic disease associating TAM with asplenia, thrombocytopenia, miosis, ichthyosis, short stature and dyslexia[ncbi.nlm.nih.gov]
  • Gov't MeSH terms Amino Acid Sequence Animals Base Sequence Blood Platelet Disorders/genetics Blood Platelet Disorders/metabolism Calcium/metabolism Cells, Cultured Dyslexia/genetics Dyslexia/metabolism Erythrocytes, Abnormal/metabolism Female HEK293 Cells[ncbi.nlm.nih.gov]
Anger
  • , France. 5 Scanner et IRM de la Roseraie, Angers, France. 6 Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.[ncbi.nlm.nih.gov]
  • Medicine, Bambino Gesù Children's Hospital, Rome, Italy. 7 Institute of Neurology, Catholic University School of Medicine, Rome, Italy. 8 Neurology Department, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, Angers[ncbi.nlm.nih.gov]
Mydriasis
  • Taken together, the presence of reflex activity and the failure of phenylephrine mydriasis indicate that the abnormality is unlikely to be neuropathic in origin.[jnnp.bmj.com]

Treatment

  • More on Genetics of Tubular aggregate myopathy » Treatments: Tubular aggregate myopathy Treatment : Currently, we are unaware of any targeted therapies for tubular aggregate myopathy.[familydiagnosis.com]
  • The biggest downer is being told by the medical profession that they know nothing about it and that there is no treatment. There definitely is treatment that helps some TAM folk.[braintalkcommunities.org]
  • 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]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • […] this one, if you want to know more information about this illness, you want to share your problems or you seek for support, check our dedicated forum about rare diseases where issues about Tubular Aggregate Myopathy are discussed (discussions about treatments[psychforums.com]

Prognosis

  • In recent years, MDA-supported scientists have learned that centronuclear myopathies encompass a larger group of diseases than just X-linked myotubular myopathy, and that these types often have a better prognosis than the X-linked type.[mda.org]

Etiology

  • […] for Neurology and Neurosurgery Subject Biopsy; Chronic Disease; DNA Mutational Analysis; DNA, Mitochondrial/analysis; DNA, Mitochondrial/genetics; Gene Deletion; Humans; Inclusion Bodies/pathology; Iris/pathology; Iris/physiopathology; Iris Diseases/etiology[collections.lib.utah.edu]
  • Altogether, these results pave the way for understanding the etiology of this rare neuromuscular disorder that may be considered as a “tubular aggregates myopathy with synaptopathy”.[springermedizin.de]

Pathophysiology

  • No obvious pathophysiology groups are present in these diseases caused by loss-of-function mutations. Additional file 1 : Tables S7 and S8 list all gain-of-function and loss-of-function mutation candidates passed our computational filter.[ojrd.biomedcentral.com]

Prevention

  • Tubular aggregates derive from the sarcoplasmic reticulum and are believed to represent an adaptive mechanism to regulate an increased intracellular level of calcium and prevent hypercontraction and necrosis of muscle fibers.[link.springer.com]
  • […] kinaseマップキナーゼ MELAS syndromeMELAS症候群 MIN6 cellMIN6細胞 MODY若年発症成人型糖尿病 MSHメラニン細胞刺激ホルモン MafAMafA Maillard productMaillard 反応産生物 Maillard productマイヤール反応産生物 Maillard productメイラード反応産生物 Maillard reactionマイヤール反応 Management of elevated cholesterol in the primary prevention[jds.or.jp]

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