Breaking News
September 19, 2018 - Inequality issues persist even under new U.S. kidney transplant allocation system
September 19, 2018 - New study reveals mechanisms that lead to cognitive decline in Type 2 diabetes
September 19, 2018 - FDA launches new comprehensive effort to educate kids about dangers of e-cigarettes
September 19, 2018 - Study reveals mechanism underlying plants’ ability to signal defense
September 19, 2018 - Researchers harness Zika virus vaccine under development to target glioblastoma
September 19, 2018 - Novel deep learning drug discovery platform gets £1 million innovation boost
September 19, 2018 - Sensor array may detect de novo Parkinson’s disease in breath
September 19, 2018 - A roadmap for the future of electronic health records
September 19, 2018 - Surprising research showing peptide adaptability may pave way to develop immunotherapies
September 19, 2018 - Amyloid β protein makes comeback as therapeutic target for Alzheimer’s disease
September 19, 2018 - Alcon expands its global support of eye care professionals through Alcon Experience Academy
September 19, 2018 - Study gives new insights into how cells leverage GPCRs to control inflammation
September 19, 2018 - Automatic relevance detection in ophthalmic surgery videos
September 19, 2018 - UNIST to accelerate discovery, development of new medicines for incurable diseases
September 19, 2018 - Novel clinical trial to examine cannabis as potential treatment for essential tremor
September 19, 2018 - Salsa dancers have lower injury rates than Spanish, aerobic or Zumba dancers
September 19, 2018 - Bristol-Myers Squibb’s Novel, Oral, Selective TYK2 Inhibitor Delivered Significant Skin Clearance in Patients with Moderate to Severe Plaque Psoriasis in Phase 2 Trial
September 19, 2018 - Can work stress contribute to Parkinson’s disease risk?
September 19, 2018 - Global Climate Action Summit: A focus on kids and climate
September 19, 2018 - Vitamin D may reduce breast cancer mortality in women with lower BMI
September 19, 2018 - Targeted Lung Denervation procedure significantly reduces COPD problems
September 19, 2018 - FDA-approved ‘safe’ daily BPA exposure may contribute to insulin resistance
September 19, 2018 - Research finds physical connection between the brain’s fluid reservoirs and meningeal lymphatics
September 19, 2018 - UCalgary study could help physicians make better treatment decisions for stroke
September 19, 2018 - Biomedical review finds failure rates in some surgical mesh treatments to be unacceptably high
September 19, 2018 - Researchers develop more accurate measure of body fat
September 19, 2018 - Doctors and students rally to support gun violence research, education
September 19, 2018 - LEO Pharma and MorphoSys announce expansion of strategic alliance to develop peptide-derived drugs
September 19, 2018 - Seniors in pain hop aboard the canna-bus
September 19, 2018 - New compound could prevent malaria parasites from maturing inside mosquito
September 19, 2018 - Scientists find alterations in blood flow in response to body position change
September 19, 2018 - UNC Health Care extends free access to virtual care service in the aftermath of Hurricane Florence
September 19, 2018 - Opioid Refills Rare After Rhinoplasty
September 19, 2018 - Corn, obesity, and navigating healthy eating choices as a parent
September 19, 2018 - Journal editor aims to prompt thoughtful review of ethics in precision health
September 19, 2018 - Researchers identify key step in how plant cells respond to pathogens
September 18, 2018 - Researchers analyze how exposure to silver nanoparticles affects zebrafish
September 18, 2018 - Study shows air pollution may be bad for the fetus
September 18, 2018 - Coffee May Have Another Perk for Kidney Patients
September 18, 2018 - Tongue-in-cheek Nobels honor nutritional analysis of cannibalism, roller-coaster kidney stones treatment
September 18, 2018 - Progress, priorities, challenges are focus of State of Stanford Medicine | News Center
September 18, 2018 - Established Alzheimer’s Risk Gene Has a New Role
September 18, 2018 - Hospitalization after antibiotic initiation found to be higher for people with Alzheimer’s disease
September 18, 2018 - Many children with special healthcare needs do not have access to ‘PCMH-concordant’ care
September 18, 2018 - Investigational nasal influenza vaccine tested in children and teens
September 18, 2018 - Lymphatic vessels surrounding the brain play crucial role in multiple sclerosis, research suggests
September 18, 2018 - New fiber laser-based ultrasound sensor may have potential applications in medical diagnostics
September 18, 2018 - Protect your heart and health during ‘dog days’ of summer
September 18, 2018 - Faculty receive awards for promise in biomedical research, clinical care | News Center
September 18, 2018 - Digital games for CVD-related self-management improve exercise capacity and energy expenditure
September 18, 2018 - Aluminum inclusions help enhance adsorption of chemo drugs onto active carbon delivery capsule
September 18, 2018 - Adding PET scans to CT imaging can change treatment for women with cervical cancer
September 18, 2018 - UCSF awarded $20 million grant to study impacts of new, emerging tobacco products
September 18, 2018 - Human brains may be wired to prefer lying on the couch, suggests research
September 18, 2018 - Zika virus vaccine shows promise for treatment of fatal glioblastoma
September 18, 2018 - Theravance Biopharma and Mylan to Report New Data from Phase 3 Studies of Yupelri (revefenacin) in Oral Presentation at European Respiratory Society International Congress 2018
September 18, 2018 - INSiGHT identifies unique retinal regulatory genes
September 18, 2018 - Diversity, science leadership grants awarded to student-faculty pairs | News Center
September 18, 2018 - Many parents blame electronics for sleep problems among teens
September 18, 2018 - Researchers study neuronal activity in brain that prevents individuals from doing physical activity
September 18, 2018 - Purifying Proteins from Mammalian Cell Culture
September 18, 2018 - Researchers map 3D structure of toxic proteins used by Pseudomonas aeruginosa to trigger infection
September 18, 2018 - Outcome of ACL reconstruction related to the way you move post-surgery
September 18, 2018 - Study aims to investigate risk factors for PPCs in surgical patients with gastric cancer
September 18, 2018 - Ardelyx Submits New Drug Application for Tenapanor for IBS-C
September 18, 2018 - Sociodemographic disparities in eyeglass use among elderly
September 18, 2018 - New Drug Shows Promise for Progressive Form of MS
September 18, 2018 - Babies exposed to higher levels of organochlorine compounds in womb may have worse lung function
September 18, 2018 - Women exposed to trauma in their lives gave birth to underweight male infants
September 18, 2018 - Probiotic supplementation may reduce use of antibiotics, scientific analysis shows
September 18, 2018 - Resveratrol decreases pain severity and levels of inflammatory biomarkers in osteoarthritis patients
September 18, 2018 - Research shows pollution is reaching the placenta
September 18, 2018 - KAIST researchers develop heart-targeting drug delivery technology using tannin acid
September 18, 2018 - Muscle relaxants used during general anesthesia can increase risk of pulmonary complications
September 18, 2018 - Silicone breast implants may increase risk of rare adverse outcomes in women
September 18, 2018 - Pediatricians Have a Role in Encouraging Play Among Children
September 18, 2018 - California’s Medicaid program hits ‘print’ when the feds need info
September 18, 2018 - Genes, environment and schizophrenia—new study finds the placenta is the missing link
September 18, 2018 - Boehringer Ingelheim announces study results of COPD patients treated with Spiolto Respimat
September 18, 2018 - PAREXEL launches Patient Innovation Center to improve drug development process
Mitochondrial disease patients face difficult road to diagnosis

Mitochondrial disease patients face difficult road to diagnosis

image_pdfDownload PDFimage_print

A new study documents the prolonged and difficult path patients face before they are diagnosed with mitochondrial diseases, a group of rare, debilitating genetic disorders. The study was led by researchers at Columbia University Irving Medical Center; findings appear in the journal Neurology: Genetics.

An estimated 75,000 Americans live with genetic conditions that result from failures of the mitochondria—intercellular compartments responsible for creating more than 90 percent of the energy needed by the body to sustain life and support organ function.

The researchers conducted a survey of 210 patients with physician-diagnosed mitochondrial disease recruited through the National Institutes of Health-funded Rare Diseases Clinical Research Network. On average, patients said they saw more than eight different physicians prior to getting a diagnosis. More than half (55 percent) reported being misdiagnosed on their way to a mitochondrial disease diagnosis, and of these, nearly one-third (32 percent) were misdiagnosed more than once. The most common misdiagnosis was for psychiatric disorder (13 percent), followed by fibromyalgia (12 percent), chronic fatigue syndrome (9 percent), and multiple sclerosis (8 percent). Along their diagnostic journey, most patients underwent several diagnostics tests, including blood tests, brain MRIs, muscle biopsies, and genetic tests.

“This study demonstrates that the road to a mitochondrial disease diagnosis is typically long and hard, involving visits to numerous clinical specialists, conflicting diagnoses, and repeated and sometimes painful and invasive testing,” says Michio Hirano, MD, the paper’s senior clinical author and chief of the Neuromuscular Division at Columbia University Irving Medical Center.

“We tried to be sensitive to the patients’ experience and burden,” says John L. P. (Seamus) Thompson, PhD, the study’s senior author, professor of Biostatistics at the Mailman School, who worked with a former student, Johnston Grier, MPH ’16, and the other authors to design the 25-item study questionnaire.

“As much as we wanted to ask them every question we had, we had to design a streamlined survey to get a good response,” said Grier, the lead author, who collaborated with the United Mitochondrial Disease Foundation where he became familiar with the patient perspective, which he wove into the survey design.

In all, survey participants reported more than 800 symptoms. The most common of these that motivated patients to see a doctor was weakness (62 percent), followed by fatigue (56 percent), difficulty walking (39 percent), droopy eyelids (33 percent), and impaired coordination (32 percent). The most frequent mitochondrial disease diagnosis was myopathy (disease of skeletal muscle, 22 percent), followed by chronic progressive external ophthalmoplegia (CPEO, impaired eye movements, 10 percent), and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS, caused by defects in the mitochondrial genome, 9 percent). Nearly one-third of participants (28 percent) reported “other” mitochondrial diseases.

“The heterogeneity of symptoms plays a role in prolonging diagnosis,” says Hirano. “Patients often start by seeing their primary care physician, most of whom, understandably, aren’t familiar with mitochondrial diseases, which can mimic other disorders.

“These findings signal a need for improved diagnostics, particularly in the areas of genetic testing, standardized diagnostic criteria, as well as improved clinical training,” he adds. “We will continue to monitor the diagnostic process over the coming years.”


Explore further:
Intravenous arginine benefits children after acute metabolic strokes

More information:
“The Mitochondrial Disease Patient’s Diagnostic Odyssey: Results of A Survey,” Neurology: Genetics, 2018.

Provided by:
Columbia University’s Mailman School of Public Health

About author

Related Articles