Spinal Atrophy Spinal Muscular Atrophy
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: Part One: • SMA type 1, 2, 3 and 4, confirmed with a homozygous or heterozygous deletion of SMN1 • *12 years and older • Treatment-naïve concerning SMN- modulators or NMJ-modulators (including pyri-dostigmine and oral salbutamol) o In case of the use of pyridostigmine by indication of SMA, patients are asked to stop treatment 1 day prior to the examination Part Two: • SMA type 1, 2, 3 and 4, confirmed with a homozygous or heterozygous deletion of SMN1 • *12 years and older • Treatment with SMN- modulator
Exclusion criteria
Exclusion criteria: Strong apprehension against the performance of EMG of any kind
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Part 1 CMAP (APB (median nerve)) CMAP scan (APB (median nerve)) Excitability testing (APB (median nerve)) H-reflex (FCR (median nerve)) RNS (3Hz at APB (median nerve) and trapezoid (n accesorius); 50Hz at APB (median nerve)) SNAP (median/radial/ulnar nerve, sural nerve) Part 2 CMAP scan (APB (median nerve)) SNAP (median nerve, sural nerve) Excitability testing (APB (median nerve)) | — |
Secondary
| Measure | Time frame |
|---|---|
| n.a. | — |
Countries
Netherlands