| Title |
Diagnostic odyssey of patients with myotonic dystrophy
|
|---|---|
| Published in |
Journal of Neurology, June 2013
|
| DOI | 10.1007/s00415-013-6993-0 |
| Pubmed ID | |
| Authors |
James E. Hilbert, Tetsuo Ashizawa, John W. Day, Elizabeth A. Luebbe, William B. Martens, Michael P. McDermott, Rabi Tawil, Charles A. Thornton, Richard T. Moxley |
| Abstract |
The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM) patients enrolled in the US National Registry [679 DM type 1 (DM1) and 135 DM type 2 (DM2) patients]. Age of onset averaged 34.0 ± 14.1 years in DM2 patients compared to 26.1 ± 13.2 years in DM1 (p < 0.0001). The most common initial symptom in DM2 patients was leg weakness (32.6 %) compared to grip myotonia in DM1 (38.3 %). Pain was reported as the first symptom in 11.1 % of DM2 and 3.0 % of DM1 patients (p < 0.0001). Reaching the correct diagnosis in DM2 took 14 years on average (double the time compared to DM1) and a significantly higher percentage of patients underwent extended workup including electromyography, muscle biopsies, and finally genetic testing. DM patients who were index cases experienced similar diagnostic delays to non-index cases of DM. Further evaluation of how to shorten these diagnostic delays and limit their impact on burdens of disease, family planning, and symptom management is needed. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 79 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 1% |
| Colombia | 1 | 1% |
| Unknown | 77 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 14 | 18% |
| Student > Ph. D. Student | 9 | 11% |
| Student > Bachelor | 9 | 11% |
| Other | 8 | 10% |
| Student > Master | 7 | 9% |
| Other | 15 | 19% |
| Unknown | 17 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 22 | 28% |
| Biochemistry, Genetics and Molecular Biology | 13 | 16% |
| Neuroscience | 7 | 9% |
| Agricultural and Biological Sciences | 6 | 8% |
| Chemistry | 3 | 4% |
| Other | 12 | 15% |
| Unknown | 16 | 20% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 22 October 2021.
All research outputs
#6,392,829
of 22,713,403 outputs
Outputs from Journal of Neurology
#1,525
of 4,455 outputs
Outputs of similar age
#54,528
of 196,335 outputs
Outputs of similar age from Journal of Neurology
#13
of 48 outputs
Altmetric has tracked 22,713,403 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 4,455 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.0. This one has gotten more attention than average, scoring higher than 64% of its peers.
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We're also able to compare this research output to 48 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 68% of its contemporaries.