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Mitochondrial Myopathy


Presentation

  • This is supported by the reported cases of myoglobinuria in mitochondrial disorders. 4 A similar but slower mechanism may explain the relatively rapid presentation in our patient, as well as the subacute mode of presentation of other mitochondrial disorders[jnnp.bmj.com]
  • However, when they present in adolescence or adulthood, they tend to present with myopathic symptoms, cardiomyopathy symptoms, or both. 1 Adults may present with fatigue, proximal muscle weakness and soreness, exercise intolerance, 1 or ptosis.[jaoa.org]
  • It can present as an idiopathic proximal myopathy with very subtle neuropathic features. Alternately, it can present with ophthalmoplegia with very subtle myopathic changes.[onlinelibrary.wiley.com]
  • Complementary and alternative medicine Medicine(all) Cite this Apa Standard Harvard Vancouver BIBTEX RIS @article{4ea902ecd7be4c4d90d52ec63baaed35, title "Mitochondrial myopathy presenting as Rhabdomyolysis", abstract "A 37-year-old white woman presented[mayoclinic.pure.elsevier.com]
  • Trial evaluating treatment with elamipretide in rare disease meets efficacy and safety endpoints Data to be presented at Mitochondrial Medicine 2016 on Friday, June 17 at 8:10 a.m.[stealthbt.com]
Inflammation
  • Nevertheless, muscle biopsies from our patients disclosed no inflammation, a finding that could have supported this theory.[jnnp.bmj.com]
  • The presence of ragged‐red fibers in the absence of inflammation or serologic evidence for autoimmunity suggested a mitochondrial disorder.[onlinelibrary.wiley.com]
  • The perivascular or endomysial inflammation varied from mild to severe in the majority of patients but was not easily detectable in four zidovudine-treated patients (Patients 2, 7, 11, and 15; Table 1 ).[nejm.org]
  • Myopathies in Adults In practice, myopathies often have nothing to do with the mitochondrial, but are acquired or due to another cause (slide 5), including: Inflammatory (common cause) -- Polymyositis, inclusion body myositis, including cancer that causes inflammation[mitoaction.org]
Proximal Muscle Weakness
  • In our case, bilateral symmetric proximal muscle weakness of the extremities was the only symptom.[ommegaonline.org]
  • The patient had minimal objective findings, and a careful physical examination revealed mild proximal muscle weakness, manifested more in the legs.[journals.sagepub.com]
  • However, when they present in adolescence or adulthood, they tend to present with myopathic symptoms, cardiomyopathy symptoms, or both. 1 Adults may present with fatigue, proximal muscle weakness and soreness, exercise intolerance, 1 or ptosis.[jaoa.org]
  • The previous case reports serve to demonstrate that because mitochondrial myopathies present with proximal muscle weakness, they can be mistaken for inflammatory myopathies. Clues that the patient has a mitochondrial myopathy are shown in Table 1.[onlinelibrary.wiley.com]
  • All the patients had proximal muscle weakness, myalgia, a two- to six-fold elevation of the serum creatine kinase level (measured by an enzymatic reaction), and evidence of myopathic changes in the electromyogram, all of gradual onset, as previously reported[nejm.org]
Muscle Tenderness
  • Physical examination disclosed diffuse and pronounced muscle tenderness and moderate to severe proximal limb weakness (3/5 on the MRC scale), with normal strength distally. Tendon reflexes were hypoactive.[jnnp.bmj.com]
Exercise-induced Muscle Pain
  • Comment Mitochondrial myopathies can present as rhabdomyolysis or exercise-induced muscle pain, particularly in adolescents and adults. 1, 4 Diagnosis is made by muscle biopsy, but genetic testing is required for genetic counseling, which allows patients[jaoa.org]
Polyneuropathy
  • However, her erythrocyte sedimentation rate was accelerated (65/115), and serum creatine kinase concentrations were slightly raised (146 units, normal Electrodiagnostic evaluation disclosed a sensory polyneuropathy (conduction velocity of 32.9 m/s in[jnnp.bmj.com]
  • Chronic axonal sensorimotor polyneuropathy is the most common pattern, but small fiber neuropathy 13 and autonomic nervous system dysfunction 14 have also been reported.[journals.sagepub.com]
Tremor
  • […] the neck, arms or legs Difficulty swallowing In some cases, PEO affects other parts of the body and causes additional symptoms, including: Sensorineural hearing loss Balance problems and difficulty coordinating movements (ataxia) Slow movements and tremors[chop.edu]

Workup

  • The diagnostic workup requires a complex approach that includes routine and special laboratory tests.[rarediseases.org]
Chlamydia
  • Serologic tests for Borrelia burgdorferi, Brucella, Chlamydia pneumoniae, Bartonella henselae and B quintana, Coxiella burnetii, Helicobacter, HBsAg, anti–hepatitis C virus, anti-cytomegalovirus IgG and IgM antibodies, and Epstein–Barr virus (EB V) IgM[journals.sagepub.com]
Bartonella Henselae
  • Serologic tests for Borrelia burgdorferi, Brucella, Chlamydia pneumoniae, Bartonella henselae and B quintana, Coxiella burnetii, Helicobacter, HBsAg, anti–hepatitis C virus, anti-cytomegalovirus IgG and IgM antibodies, and Epstein–Barr virus (EB V) IgM[journals.sagepub.com]

Treatment

  • There is a major unmet medical need for new and effective treatment options for mitochondrial myopathies since there is no specific treatment for these serious diseases.[neurovive.com]
  • Treatment Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity.[ninds.nih.gov]
  • To better elucidate the treatment landscape for PMM, NeurologyLive spoke with Bruce H.[neurologylive.com]

Prognosis

  • Prognosis The prognosis for patients with mitochondrial myopathies varies greatly, depending largely on the type of disease and the degree of involvement of various organs.[ninds.nih.gov]
  • Prognosis The prognosis for patients with mitochondrial myopathies varies greatly, depending largely on the type of disease and the degree of involvement of various organs. These disorders cause progressive weakness and can lead to death.[brainfacts.org]
  • The prognosis for these disorders ranges in severity from progressive weakness to death. CONTINUE SCROLLING OR CLICK HERE FOR RELATED ARTICLE SLIDESHOW Heart Disease: Causes of a Heart Attack See Slideshow[medicinenet.com]
  • Prognosis MELAS syndrome widely varies in presentation; however, patients in general tend to have a poor prognosis and outcome. The encephalomyopathy tends to be severe and progressive to dementia.[emedicine.medscape.com]

Etiology

  • Research over the years has identified many underlying biological abnormalities, mitochondrial dysfunction among them, but the etiology remains uncertain. 2 No intervention has been proven effective in restoring the ability to work. 3 Primary mitochondrial[journals.sagepub.com]
  • Other etiologies such as deconditioning, obesity, malignancy, anemia, and sleep apnea are described less frequently ( 1-4 ), and often the cause remains elusive after an aggressive evaluation ( 3 ).[atsjournals.org]

Epidemiology

  • Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM: The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol. 2000, 48: 188-193. 10.1002/1531-8249(200008)48:2 3.0.CO;2-P. 11.[jmedicalcasereports.biomedcentral.com]
  • International The first assessment of the epidemiology of mitochondrial disorders found a prevalence of more than 10.2 per 100,000 for the m.3243A G mutation in the adult Finnish population.[emedicine.medscape.com]
  • Within the mitochondrial diseases, PMM are very common but real epidemiological studies are not available yet. This is also because PMM often go misdiagnosed or undiagnosed so determining their true frequency in the general population is difficult.[rarediseases.org]
Sex distribution
Age distribution

Pathophysiology

  • […] inflammatory myopathies, including polymyositis, dermatomyositis, and inclusion body myositis, 2 3 and mitochondrial DNA abnormalities were recently described in patients with inclusion body myositis. 3 However, these changes are considered secondary and their pathophysiological[jnnp.bmj.com]
  • This makes sense from a pathophysiological point of view, because small fiber neuropathy affects small somatic fibers and autonomic fibers, being able to give sensory and autonomic symptoms.[journals.sagepub.com]
  • Post operative CNS dysfunction is likely in MM and pathophysiology is directly attributable to the patient’s primary pathology of dysfunctional mitochondria.[mhaus.org]
  • Wallace DL, Zheng X, Lott MT - Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55:601, 1988. [ Links ] 51.[scielo.br]
  • Bradley LA: Pathophysiology of fibromyalgia. Am J Med. 2009, 122 (Suppl): S22-30. 8. Jaeschke R, Adachi J, Guyatt G, Keller J, Wong B: Clinical usefulness of amitriptyline in fibromyalgia: the results of 23 N-of-1 randomized controlled trials.[jmedicalcasereports.biomedcentral.com]

Prevention

  • The goal is to develop a treatment that protects the mitochondria in the muscles from disturbed calcium handling and subsequent muscular dystrophy, thus preventing the muscle weakness associated with these diseases.[neurovive.com]
  • Prevention There are no current guidelines to prevent mitochondrial myopathies. If you have a family history of the disorder, you can talk to a genetic counselor when deciding whether to have children. References DiMauro S.[lahey.org]
  • Research is ongoing to develop a way to prevent the transmission of mitochondrial DNA mutations to future children.[mda.org.au]
  • The energetics from mitochondria maintain healthy physiology and prevent disease. This mitochondria-targeted candidate is being developed for both rare and common diseases.[stealthbt.com]
  • The goals of this research are to increase scientific understanding of these disorders and to find ways to effectively treat, prevent, or potentially cure them. View research on this topic. View studies being conducted about this condition.[brainfacts.org]

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