amyotrophic lateral sclerosis neuromuscular diseases
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: - Age >= 18 years - Written informed consent - Patients with suspected MND and who are referred for an EMG, healthy controls and family members of patients with MND who have an established genetic mutation
Exclusion criteria
Exclusion criteria: - Age
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Axonal excitability-variables of the median nerve motor axons at the wrist to determine ion channel dysfunction. Each excitability test consists of 4 subtests, including: (i) Latent addition and strength-duration time constant (SDTC) reflects activation of persistent Na-channels, (ii) threshold electrotonus reflects resting membrane potential, (iii) current-voltage (I/V) relationship reflects activity of slow K-channels and HCN-channels, (iv) recovery cycle reflects transient Na-channel inactivation. 2. Clinical parameters of functional state (ALSFRS-R questionnaire), survival and/or time to assisted ventilation. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Sonographic variables (amount of fasciculations - in median nerve innervated muscles, and nerve size - cross-sectional area of median nerve at forearm and upper arm level) on ultrasound imaging. 2. Demographic data and patient characteristics (age, gender, weight, medical history, disease duration), and results from routine genetic testing (sporadic or familial ALS with genetic mutations e.g. C9orf72). 3. Data from routine EMG and CMAP scan based examination (electromyographic features of lower motor neurone involvement). | — |
Countries
Netherlands
Outcome results
None listed