Fig 1.
1 As this manuscript was limited to baseline data, there were no withdrawal of participants. 2 To be defined as “sitter” the patient must have a score ≥ 1 on item 9 of the MFM (“with support of one or both upper limbs maintain the seated position for 5 seconds”). For 3 patients the MFM could not be performed at baseline. 2 were classified as sitters since they had a score of 3 at the 6-month follow-up visit and 1 was retrospectively classified as a non-sitter according to patient files. 3 To be defined as “Ambulant” the patient must be able to walk 10 meters without human assistance or use of an ambulation device such as a cane or a walker.
Table 1.
Baseline clinical and physical characteristics and of enrolled patients.
Fig 2.
Psychomotor development of patients with SMA type 2 and 3.
A: General motor development; B: Fine motor development; Values for ages displayed on histograms are median (min-max); * p ≤ 0.05.
Table 2.
Motor function in SMA type 2 and 3 patients.
Table 3.
Pulmonary function in SMA type 2 and 3 patients.
Table 4.
Muscle strength in SMA type 2 and 3 patients.
Table 5.
Electrophysiologic assessment of SMA type 2 and 3 patients.
Fig 3.
Example of MRI images of patients with SMA type 2 and 3.
A. Example of Dixon images and water T2 map in mildly (upper panel; non-ambulant SMA type 3) and more severely (lower panel; non-sitter SMA type 2) infiltrated patient forearms; B. Example of Dixon images and water T2 map in mildly (upper panel) and more severely (lower panel) infiltrated ambulant patient thighs; C. Example of series of spin echo images at increasing TEs (10 ms steps) in the forearm of a patient and the water T2 map reconstructed from this series using the tri-exp fitting method.
Table 6.
Muscle MRI imaging of SMA type 2 and 3 patients.
Table 7.
Molecular SMA biomarkers.
Fig 4.
Correlation matrix between motor function (MFM) total score and other outcome measures.
Abbreviations: FVC: Forced Vital Capacity; MEP: Maximum Expiratory Pressure; MIP: Maximum Inspiratory Pressure; PCF: Peak Cough Flow; SNIP: Sniff Nasal Inspiratory Pressure; 6MWT: 6-Minutes-Walk Test; 10MWT: 10-Meters-Walk Test; nGyr: norm of the angular velocity of the wrist; nAcc: norm of the acceleration of the wrist; zAcc: vertical acceleration of the wrist; ADM: Abductor Digiti Minimi; CMAP: Compound Muscle Action Potentials; C-CSA: Contractile-Cross Section Area; Abnormal T2: percentage of voxels with abnormal T2 Values in red: Spearman’s correlation test with p ≤ 0.05.