Table 3.
Clinical and paraclinical characteristics of the cohort of non-5q proximal SMA patients.
| Number | Age at onset (years)/sex/age at exam (years) | Family history of SMA (relationship) | Muscle predominance of lower limb weakness | Upper limb weakness (prox., dist. or PD) | Axial muscle weakness | Osteoarticular deformities (type) | Tremor (R or P) | Pyramidal signs | Scapular winging | Walking aid at last exam (age at last exam in years) | CK elevation | Fibrillations or positive sharp waves on 1st EMG (years after symptom onset) | Genes and variants |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1/H/23 | + (brother) | Psoas | − | − | + (club foot, pes cavus) | − | − | − | − (32) | + | − (22) |
DYNC1H1 c.1427T>C |
| 2 | 1.5/M/11.5 | + (mother) | Quadriceps | − | + | + (scoliosis) | − | − | + | − (11.5) | − | − (10) |
DYNC1H1 c.1792C>T |
| 3 | 5/F/35 | + (son) | Global | − | − | − | + (P) | − | − | − (35) | NA | − (30) |
DYNC1H1 c.1792C>T |
| 4 | 2/M/3 | − | Global | − | − | + (pes planus) | − | − | − | + Wheelchair (10) | − | − (8) |
DYNC1H1 c.751C>T |
| 5 | 0/F/47 | + (son) | Quadriceps | − | − | + (achilles, knee and hip retractions, pes equinovarus) | − | − | − | + Wheelchair (49) | + | − (46) |
DYNC1H1 c.2327C>T |
| 6 | 0/M/21 | − | Quadriceps | − | − | + (achilles and knee restraction, pes cavus) | + (R) | − | + | − (26) | − | − (21) |
DYNC1H1 c.596A>C |
| 7 | 11/F/11 | − | Global | − | − | + (scoliosis, pes cavus) | − | + (brisk achilles reflexes) | − | − (18) | NA | + (0) |
BICD2 c.1922T>C |
| 8 | 10/F/39 | − | Psoas | − | − | + (scoliosis, achilles retraction) | − | − | − | + Walking stick (50) | − | − (0) |
BICD2 c.2042C>T |
| 9 | 27/M/33 | − | Quadriceps | − | − | + (pes cavus) | − | − | − | − (57) | + | − (17) |
BICD2 c.380A>G |
| 10 | 14/F/19 | − | Psoas | + (prox.) | + | + (scoliosis, pes planovalgus) | + (P) | − | + | − (26) | − | − (5) |
ASAH1 c.77C>G and c.125 + 1G>A |
| 11 | 11/F/12 | − | Quadriceps | + (dist.) | − | + (pes cavus) | − | − | − | + Wheelchair (23) | − | + (2) | − |
| 12 | 38/F/41 | − | Global | − | − | + (scoliosis) | − | − | − | − (59) | + | + (0) | − |
| 13 | 18/F/24 | − | Psoas | − | + | + (scoliosis) | + (brisk achilles and patellar reflexes) | − | + Walker (61) | − | + (6) | − | |
| 14 | 52/F/53 | − | Global | + (prox.) | + | − | − | − | − | − (53) | − | − (1) | − |
| 15 | 1/F/37 | − (HSP in son) | Psoas | + (prox) | − | − | + (P) | − | − | − (43) | + | − (22) | − |
| 16 | 30/F/38 | + (sister) | Psoas | − | − | − | − | − | − | − (41) | + | − (8) | − |
| 17 | 22/F/27 | − | Global | + (dist.) | + | − | + (R and P) | + (brisk achilles and patellar reflexes) | − | − (27) | − | − (5) | − |
| 18 | 22/F/26 | − | Quadriceps | − | − | − | − | − | − | − (31) | + | + (4) | − |
| 19 | 36/F/49 | − | Quadriceps | + (prox) | + | − | − | − | − | − (55) | + | + (12) | − |
| 20 | 53/F/59 | − | Psoas | + (PD) | − | + (scoliosis, pes cavus) | − | − | − | − (59) | + | − (7) | − |
| 21 | 29/F/50 | − | Quadriceps | + (PD) | + | + | + (P) | − | + | + Walker (57) | + | − (28) | − |
| 22 | 27/M/27 | − | Global | − | + | − | + (P) | − | − | + Wheelchair (73) | NA | − (46) | − |
| 23 | 28/F/33 | − | Global | − | − | − | − | − | − | − (33) | − | − (5) | − |
| 24 | 22/F/43 | − | Psoas | − | − | − | − | − | − | − (46) | + | − (21) | − |
F female, M male, SMA Spinal muscular atrophy, NA not available, CK creatine kinase, EMG needle electromyography, prox. proximal, dist. distal, PD proximo-distal, R resting, P postural, HSP hereditary spastic paraplegia.