Tag Archives: registry

French Myotonic Dystrophy Registry

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A new article gives good information on the breakdown of DM1 in the French population. 

Fig. 3 Cartography of place of residence of enrolled DM participants. a The individual representation (N = 2875). Each dot refers to one patient
place of residence and dots position is allocated to a random position in the corresponding department (top left). b The regional distribution
according to the density of population (N = 2875). Darker the green is, more the DM is prevalent in the department (top right). c Distribution of
DM-Scope Registry enrolled patients among paediatric French neuromuscular expert centres (26 centres, N = 255). The number of enrolled
patients is spot-size dependent (bottom left). d Distribution of DM-Scope Registry enrolled patients among adult French neuromuscular expert
centres (29 centres, N = 2620). The number of enrolled patients is spot-size dependent (bottom right)
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New Myotonic Family Registry Launching In February 2013

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Recently the MDF (Myotonic Dystrophy Foundation) announced the launching of a new patient registry. This registry looks very exciting and apparently will be some kind on interactive database. The database will help both patients and researchers. The patients will benefit by hopefully more easy access to clinical trials that will be starting soon. Researchers benefit by reducing the cost of finding and identifying patients with DM. Click here for the announcement from the MDF  Here is the new logo for the Registry

Make sure to sign up for this registry when it is available later this month

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Symptoms that Bother Patients with DM1 the Most

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The study looked at  PRISM-1 for “patient-reported impact of symptoms in myotonic dystrophy type 1” — was conducted in two parts. What was surprising is that Fatigue and mobility are the two items that affect Dm1 patients the most.

Phase 1 involved interviews with 20 people age 21 or older with adult-onset MMD1. (People with congenital- or juvenile-onset MMD1 were not included in this study. These diseases have separate symptoms, onsets, and progression paths)

In the interviews, people were asked to identify the symptoms of DM1 that have the greatest effect on their lives. Recurring similar comments were grouped to identify 221 important DM1 symptoms, which the investigators then divided into 14 themes. All 20 people who were invited to participate in this phase did so.

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