# Motor Outcome Measures in Pediatric Patients with Congenital Muscular Dystrophies: A Scoping Review
## 3 Results
### Synthesis of Results
#### 3.2.5 Studies in Patients with SEPN1-RM  
We found two articles regarding motor outcomes in patients with SEPN1-RM. The details of the articles are reported in Table 5.  
\begin{table}
\begin{tabular}{c c c c c c} \hline \hline
**Authors, Year** & **Study Design** & **Type of CMD** &
\begin{tabular}{c} **Sample** \\ **(Size, Sex, Age)** \\ \end{tabular} & **Assessment** & **Results** \\ \hline [PERSON] et al., 2022 [13] & Case series & [PERSON]— & n = 13; 5 F/8 M; 1–17 years & The Upper Limb & The group of patients scoring \(\leq\)S on the Upper Limb Function Measure of Muscular & Limb Function Measure of Muscular & showed significantly lower HMFS (\(p\) = 0.018) and GMFM (\(p\) = 0.020) scores than patients scoring \(\geq\)6 \\ \hline [PERSON] et al., 2018 [14] & Case series & Fukuyama— & n = 207; 103 F/104 M; 0–42 years & Clinical assessment & Clinical support: 5 subjects (2%); walking independently. 5 subjects (2%); climbing status: 6 subjects (3%). & **Phenotype–**severe 79 (38%), typical 102 (49%), mild 22 (11%), unknown 4 (2%). & **Phenotype–**severe 79 (38%), typical 102 (49%), mild 22 (11%), unknown 4 (2%). & **Phenotype–**severe 79 (38%), typical 102 (49%), unknown 4 (2%). & **Maximum motor development** \\  & & & & Severe–without head control: 37 subjects (18%); with head control: 42 subjects (20%). & \\  & & & & Typical—**sitting without support: 49 subjects (24%); sliding on the buttocks: 53 subjects (26%). & \\ [PERSON] et al., 2018 [14] & Case series & Fukuyama— & n = 207; 103 F/104 M; 0–42 years & Clinical assessment & Mild—**crawing 6 subjects (3%); walking with support: 5 subjects (2%); walking independently. 5 subjects (2%); climbing status: 6 subjects (3%). & **Maximum motor development over age** \\  & & & & **5 years (N = 114)** & Severe–without head control: 8 (7.0\%); with head control: 12 (11%). & \\  & & & & Typical–sitting without support: 23 (20%); sliding on the buttocks: 46 (40%). & \\  & & & & Mild—**crawing: 14 (12%); walking with support: 3 (2.6\%); walking independently: 4 (3.5\%); climbing stairs: 4 (3.5\%). & \\ \hline \hline \end{tabular}
\end{table}
Table 4: Motor outcome measures in patients with FCMD (FCMD: Fukuyama; GMFM: Gross Motor Function Measure; HMFS: Hammersmith Motor Function).  
\begin{table}
\begin{tabular}{c c c c c c} \hline \hline
**Authors, Year** & **Study Design** & **Type of CMD** & \begin{tabular}{c} **Sample** \\ **(Size, Sex, Age)** \\ \end{tabular} & **Assessment** & **Results** \\ \hline [PERSON] et al., 2020 [15] & \multirow{4}{*}{\begin{tabular}{c} Case series \\ Cross-sectional \\ \end{tabular} } & \multirow{4}{*}{\begin{tabular}{c} \(\text{n = 60; 31 F/ 29 M. }\) \\ Age range at last \\ \end{tabular} } & \multirow{4}{*}{\begin{tabular}{c} **Independent walking**: 50/60 patients (83%) \\ (median age at last \\ 2.5 to 36 years). Four patients were only able to take steps indoyors by holding furniture or walking with assistance. LoA: 8/50. \\ **Scoliosis:** 45/60 (75%). \\ \end{tabular} } \\  & & & \
\begin{tabular}{c} n = 25; 13 F/12 M. \\ Age range at last \\ assessment: \\ \end{tabular} & HFMS &
\begin{tabular}{c} **HFMS**: estimated annual change was \(-0.55\); \\ of timed 10 m walk, 0.16 s; of timed rise from \\ doof sitting, 0.86 s; and of timed rise from \\ door lying, 0.87 s. \\ **Spinal stiffness:** 21/25 (84%) at a median age \\ of 10 years (range 2.0–15.6 years). \\ \end{tabular} } \\  & & & & **Delayed motor milestones: 79/7 (81.4\%).** \\  & & & & Poor head control: 56/97 (57.7\%). Delayed \\  & & & & gait acquisition: 31/97 (32%). & \\  & & & & **Spinal stiffness:** 86/98 (87.8\%). \\  & & & & **Scoliosis:** 87/101 (86,1%). \\  & & & & **Contractors:** 64.4\% of cases. Achilles tendon (57.4\%), hip flexors (50%), elbows (35.2\%), or knees (31.5\%). \\ \hline \hline \end{tabular}
\end{table}
Table 5: Motor outcome measures in patients with SEPN1-RM (SPN1-RM: SEPN1-related myopathies HFMS: Hammersmith Motor Function).