Skip to main content

Table 3 Study population (training data set, n = 210; prospective data of known diagnoses, n = 64)

From: Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial

Diagnostic group Number of questionnaires (retrospective) Number of questionnaires (prospective) Number of questionnaires (total)
Diagnosis 1 (muscular dystrophy/myotonia, MdMy)a 50 10 60
Diagnosis 2 (Pompe disease, MP) 43 2 45
Diagnosis 3 (spinal muscular atrophy, SMA) 16 4 20
Diagnosis 4 (amyotrophic lateral sclerosis, ALS) 27 17 44
Diagnosis 5 (polyneuropathy, PNP) 22 23 45
Diagnosis 6 (other neuromuscular diseases, OND)b 16 8 24
Diagnosis 7 (no neuromuscular disease, NND) 36 0 36
Total 210 64 274
  1. aIncluding patients with Duchenne and Becker muscular dystrophy (MD), oculopharyngeal muscular dystrophy (OPMD), proximal myotonic myopathy (PROMM), facioscapulohumeral MD, progressive MD, limb-girdle-MD, myotonia congenita Thomsen
  2. bIncluding patients with chronic progressive external opthalmoplegia (CPEO)-plus, polymyositis, Ullrich congenital muscular dystrophy, Miyoshi myopathy, Friedreich ataxia, primary lateral sclerosis (PLS), spinal and bulbar muscular atrophy (SBMA)