Symptoma

Tubular Aggregate Myopathy

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]

  • 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]

  • 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]

  • 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]

    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]

    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]

  • Diplopia

    /pathology; Muscle, Skeletal/physiopathology; Muscle, Smooth/pathology; Muscle, Smooth/physiopathology; Mutation/genetics; Pupil Disorders/etiology; Pupil Disorders/pathology; Pupil Disorders/physiopathology Abstract A 62-year-old man presented with diplopia [collections.lib.utah.edu]

  • Dyslexia

    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]

  • 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]

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]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.de]

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]

[…] 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]

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]

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]