Myotonia and Muscle Stiffness in NMD

Myotonia, Muscle Stiffness and Elasticity in Neuromuscular Disorders

The primary objective of this study is to assess stiffness, muscle tone, relaxation periods and elasticity of various muscles in patients with dystrophic or non-dystrophic myotonia. The secondary objectives are (1) to provide reference values for stiffness, muscle tone, relaxation periods and elasticity of various muscles in patients with dystrophic or non-dystrophic myotonia; to provide reference values for stiffness, muscle tone, relaxation periods and elasticity of various muscles in patients with non-myotonic neuromuscular disorders, (3) assess correlations between to compare result values for stiffness, muscle tone, relaxation periods and elasticity with clinical muscle function tests, measured by clinical evaluation (MRC-scale) and the 6-minute walk test; (4) assess correlations between subcutaneous fat and muscle thickness and echogenicity, measured by muscle ultrasound and result values for stiffness, muscle tone, relaxation periods and elasticity.

Inclusion Criteria:

For Patients:

• ≥18 years of age
• Confirmed neuromuscular disease
• written consent
• able and willing to perform study prodcedures

For healthy volunteers:

• age ≥18 years of age
• written informed consent
• no clinical sign for neuromuscular disorders

Exclusion Criteria:

• Severe comorbidities
• Patient is participating in another clinical study using investigational treatment
• Patient cannot perform required muscle function tests
• the patient, in the opinion of the investigator, is unable to adhere to the requirements of the study