Clinical and neurological features of patients affected by amyotrophic lateral sclerosis and motor neurone disease
| Patient | Sex | First symptoms | Age (years) | Test result | Cause of death | Age at death (years) | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| At first symptom | At onset of weakness | At ascertainment | Serum creatinine kinase (SU) | Findings on neurological examination | Needle electromyography | |||||
| NA, not applicable (patient alive); ND, not done. | ||||||||||
| * Normal values <12 SU for women and <20 SU for men. | ||||||||||
| † Signs of lower motor neurone problems: weakness, atrophy, hypotonia, hypoactive or absent reflexes, and fasciculations. | ||||||||||
| IV-1 | Man | Cramps | 31 | 40 | 42 | 20.0 and 23.0* | Lower motor neurone signs in lower limbs, pyramidal tract signs in upper limbs. Postural tremor | Motor neurone disease | NA | NA |
| IV-12 | Woman | Fasciculation | 40 | 40 | 49 | 7.0 | Lower motor neurone signs in the four limbs | Motor neurone disease | Respiratory failure | 49 |
| IV-13 | Woman | Fasciculation | 43 | 43 | 49 | 19.3 and 28.0* | Lower motor neurone signs in the four limbs | Motor neurone disease | NA | NA |
| IV-14 | Woman | Fasciculation | 45 | 45 | 47 | 58.0 and 61.0* | Lower motor neurone signs in four limbs | Motor neurone disease | NA | NA |
| IV-16 | Woman | Fasciculation | 41 | NA | 44 | ND | Lower motor neurone signs in four limbs† Postural tremor | ND | NA | NA |
| IV-17 | Woman | Cramps and tremor | 30 | 42 | 43 | ND | Lower motor neurone signs in four limbs† Postural tremor | ND | NA | NA |
| IV-20 | Woman | Weakness | 42 | 42 | NA | ND | Lower motor neurone signs in the four limbs† | Motor neurone disease | NA | NA |
| IV-23 | Woman | Cramps | 25 | 38 | 55 | 18.5 | Lower motor neurone signs in the four limbs, cervical muscles, and tongue; dysarthria; and dysphagia† Postural tremor | Motor neurone disease | NA | NA |
| IV-32 | Man | Tremor | 41 | 46 | 56 | 25.3 | Lower motor neurone signs in the four limbs and thoracic muscles and dysphagia† Postural tremor | ND | NA | NA |
| IV-33 | Man | Tremor | 44 | No weakness | 49 | 20.3 | Lower motor neurone signs in the four limbs, cervico-thoracic muscles, and tongue† Postural tremor | Motor neurone disease | NA | NA |
| IV-34 | Woman | Fatigue | 37 | 40 | 45 | 14.0 | Lower motor neurone signs in the four limbs and cervical muscles, dysarthria, and dysphagia† Postural tremor Sensory loss in left lower limb | Motor neurone disease | NA | NA |
| IV-37 | Woman | Cramps | 37 | 38 | 49 | 18.0 | Lower motor neurone signs in the four limbs and dysphagia† Postural tremor | ND | NA | NA |