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

Oslo University Hospital89 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Myotonic Dystrophy 1

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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

Locations (3)

Haukeland University Hospital

Bergen, Norway

Oslo University Hispital

Oslo, Norway

Frambu Centre for Rare Disorders

Siggerud, Norway

Outcomes

Primary Outcomes

Motor Function Measures (MFM)

Functional test

Time frame: 30-45 minutes

Nine Hole Peg Test

Fine motor function test

Time frame: 1-3 minutes

Myogrip/Dynamometer

Measures hand strenght

Time frame: 1-3 minutes

Myopinch

Measures finger strenght

Time frame: 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

Time frame: 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

Time frame: 5 min

Secondary Outcomes

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.

Data from ClinicalTrials.gov

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PROMIS29

This a compostie measurement that is a 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.

Time frame: 5-10 minutes