Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol

Table 2 Inclusion and exclusion criteria SMA Motor Map

Inclusion criteria	Loss of function of the SMN1 gene
	Clinical diagnosis of SMA types 1–4	Type 1: never able to sit independently
		Type 2: achieved the ability to sit independently, but never able to walk independently
		Type 3: achieved the ability to walk independently and age at onset before 18 years
		Type 4: achieved the ability to walk independently and age at onset ≥ 18 years
	Age 12 years or older
	Treatment-naïve for SMN2- splicing modifying drugs
	Given oral and written informed consent by the patient, and their parents or legal representative in case of minors^a
Exclusion criteria	Definite	Strong apprehension against the performance of electrophysiological techniques of any kind
	Relative	Use of pyridostigmine^b
		Use of medication affecting peripheral nerve ion-channel currents^c

^aMinors are participants aged 12 through 16 years old as defined by the regulation of the Dutch Central Committee on Research Involving Human Subjects
^bIn case of pyridostigmine use by indication of SMA, patients are asked to stop treatment one day prior to examination
^cThese include: transient and persistent Na-currents which are mediated by Nav1.6 (SCN8A) ion-channels, fast potassium currents which are mediated by Kv1.1 (KCNA) ion-channels, slow potassium currents which are mediated by KCNQ1 ion-channels, and hyperpolarization-activated inward cation currents which are mediated by HCN-channels. Medication that is not allowed include quinidine, lidocaine, amiodarone, sotalol, amitriptyline, carbamazepine; though the list is not complete and in each case the drug administered by the patient will be checked for its influence on the above ion-currents

ISSN: 1471-2377