Detection of pain-associated, rare diseases by pain-drawing (facioscapulohumeral muscular dystrophy, myotonic dystrophy type 2)

Detection of pain-associated, rare diseases by pain-drawing (facioscapulohumeral muscular dystrophy, myotonic dystrophy type 2) - DssEmS2

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00014776

Enrollment

110

Registered

2018-06-01

Start date

2018-06-03

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

G71.0 G71.1

Interventions

Group 1: patients with assured diagnosis facioscapulohumeral muscular dystrophy and patients with assured diagnosis myotonic dystrophy type 2 Group 2: patients with a common diagnosis as a cause of c

Eligibility

Sex/Gender

All

Age

18 Years to No maximum

Inclusion criteria

Inclusion criteria: assured diagnosis facioscapulohumeral muscular dystrophy and patients with assured diagnosis myotonic dystrophy type 2, age >18, informed consent

Exclusion criteria

Exclusion criteria: age below 18 years, non-assured diagnosis, missing informed consent additional for the control group: patients with a rare diagnosis are excluded

Design outcomes

Primary

Measure	Time frame
The aim of the study (retrospective cross-sectional study) is to identify reptitive patterns in pain-drawings of patients with rare dieseases and thus investigate whether the detection of rare diseases can be accelerated by pain-drawing. The minimal number of participants is 30/disease. As a control group at least 50 patients with a common diagnosis as a cause of chronic pain are required.	—

Secondary

Measure	Time frame
no outcome defined	—

Countries

Austria, Germany, Switzerland

Contacts

Public ContactDorian Emmert

Zentrum für seltene Erkrankungen

s6doemme@uni-bonn.de0228/28751070

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026