Patient cohorts included in the study
| Disorder | Number of patients | Clinical features |
|---|---|---|
| LMNS | 215 | Predominantly lower motor neuron disease, including patients with atypical CMT2 (SMAJ-like phenotype) |
| ALS | 55 | Signs of UMN and LMN involvement |
| Non-specific neurogenic | 24 | Cramp-fasciculation syndrome, no widespread weakness, neurogenic findings on EMG and/or muscle biopsy |
| HSP | 28 | No signs of LMN involvement |
| Mitochondrial myopathy | 14 | Muscle histology compatible with mitochondrial disease |
ALS, amyotrophic lateral sclerosis; CMT2, Charcot-Marie-Tooth disease type 2; EMG, electromyography; HSP, hereditary spastic paraplegia; LMN, lower motor neuron; LMNS, lower motor neuron syndrome; UMN, upper motor neuron.