Symptoms and Outcome Measures for Upper- Limb Function in Myotonic Dystrophy Type 1

Study Overview
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Brief Summary
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Myotonic Dystrophy type 1 (DM1) is a multisystem disease that causes muscle weakness and myotonia. As a result upper limb function might become impaired. In this study we will examine patients with DM1 and record their upper limb function. We will will use a battery of patient reported outcomes (PROs) and Outcome measures (OMs) in order to evalute which ones are suitable for use in clinical practise and research studies.

Official Title
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Symptoms and Outcome Measures for Upper- Limb Function in Myotonic Dystrophy Type 1

Conditions
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Myotonic Dystrophy 1

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: • Genetically confirmed Myotonic Dystrophy type 1 Exclusion Criteria: Unable to answer or understand questionnaires due to language barriers or cognitive status Unable to perform functional tests

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Motor Function Measures (MFM) | Functional test | 30-45 minutes | 
| Nine Hole Peg Test | Fine motor function test | 1-3 minutes | 
| Myogrip/Dynamometer | Measures hand strenght | 1-3 minutes | 
| Myopinch | Measures finger strenght | 1-3 minutes | 
| ABILHAND Questionnaire | A measure of manual ability for adults with upper limb impairments. The scale measures a person's ability to manage daily activities that require the use of the upper limbs, whatever the strategies involved. Consists of 22 questions (18 to be answered by adults). The categories are easy, difficult or unable to perform. The querionnaire gives a sum score where higher score equals better function.Score from 0 to 36 | 5 min | 
| ACTIVLIM Questionnaire | A measure of activity limitations for patients with upper and/or lower limb impairments. The scale measures a patient's ability to perform daily activities requiring the use of the upper and/or the lower limbs, whatever the strategies involved. Consists of 22 questions (18 to be answered by adults). The categories are easy, difficult or unable to perform. The questionnaire gives a sum score where higher score equals better function. Score fror 0 to 36 | 5 min | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Trunk Impairment Scale - modified Norwegian version | Motor impairment of trunk measured by functional testing. Six subdomains measuring stability and mobility of trunkal movement. Min score 0 - Max score 16. Higher score indicates better function. | 8-15 minutes | 
| Four Square Step Test | Dynamic balance test | 1-3 minutes | 
| PROMIS29 | Questionnaire. Patient reported outcome measure. Generic health related quality of life assesses each of the 7 PROMIS domains (depresseion, anxiety, physical function, pain, fatigue, sleep disturbance and ability to participate in social roles). The PROMIS 29 questionnaire contains 4 questions from each of seven PROMIS contents (physical function, depression, anxiety, fatigue, sleep disorder, participation in social activities and pain interaction) and 1 question from the intensity of pain. Each item has 5 answer options (from 1 to 5), only pain intensity has 11 answer options (from 0 to 10). From the sum of the answers to each question in the domain, the total raw score for each domain is calculated, resulting in seven domain scores, each between 4 and 20. | 5-10 minutes | 
| Starkstein Apathy Scale | Questionnaire to be filled in under guidance of interviewer. Patient reported outcome measure of apathy. 14 questions, each of which is scored on a 4-point scale of 0-3, and apathy is rated as severer as the total score (0-42) increases | 5 minutes | 
| Montreal Cognitive Assessment (MoCA) | Cognitive assessment screening questionnaire. To be filled out in an interview setting. Score from 0 to 30, where a higher score indicates a better cognitive function. A score of 26 or more is considered normal. | 10 minutes | 
| Lung function test | Spirometry with FVC (Forced Vital Capasity) | 10 minutes | 
| Lung function test | PEF (Peak Expiratory Flow). | 10 minutes | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Outcome measure, Patient reported outcome, Upper limb function, arm- and hand function, Symptoms