Patient details and results of the autonomic function tests
| Patient | ||||||
|---|---|---|---|---|---|---|
| Variable | 1 (KA) | 2 (TO) | 3 (TO) | 4 (MM) | 5 (CK) | 6 (ET) |
| *With heart rate increase of 60 beats/min (postural tachycardia syndrome). | ||||||
| F, female; M, male; np, not performed; SNAP: sensory nerve action potential. | ||||||
| Age of onset (years)/sex | 46/M | 9/M | 23/M | 34/M | 37/F | 28/F |
| Initial symptoms | Anhidrosis, urinary retention | Diarrhoea, vomiting, urinary retention | Abdominal distension, vomiting | Syncope | Vomiting, urinary retention | Abdominal pain, diarrhoea |
| Clinical form | Cholinergic variant | Typical form | Typical form | Typical form | Typical form | Autonomic-sensory variant |
| Autonomic signs and symptoms | ||||||
| Orthostatic syncope | – | + | + | + | + | + |
| Pupillary abnormality | – | Tonic pupil | Tonic pupil | Tonic pupil | – | – |
| Anhidrosis | + | + | + | + | + | + |
| Paroxysmal coughing | + | – | + | + | + | – |
| Constipation/intestinal pseudo-obstruction | + | + | + | + | + | + |
| Erectile dysfunction | + | + (afterwards) | + | + | ||
| Urinary dysfunction | Retention (3 days), voiding difficulty | Retention (7days), voiding difficulty | Voiding difficulty, nocturia | Voiding difficulty | Retention (2 days), voiding difficulty | Retention (7 days), voiding difficulty |
| Deep tendon reflexes | Normal | Absent | Absent | Absent | Decreased | Absent |
| Sensory signs and symptoms | ||||||
| Tingling sensation/numbness | + (hands, feet) | – | – | + (hands) | + (generalised) | + (generalised) |
| Decrease in pain, touch | – | – | + (hands) | + (hands) | – | + (generalised) |
| Decrease in position, vibration/sensory ataxia, Romberg sign | – | – | – | – | – | + (generalised) |
| Autonomic function tests | <18 years later> | <4 years later> | ||||
| Cardiovascular function | ||||||
| Systolic pressure fall (mm Hg) in head up tilt (70°, 10 min) (normal <20) | Normal | Normal* | 50 (30°) | 76 | 18 (30°) | 58 |
| Supine plasma noradrenaline (NA) (pg/ml) (normal >100) | 291 | np | 40 | 50 | 20 | 30 |
| Supersensitivity to NA infusion (0.1 mg/kg, 5 min) | Np | np | + | + | + | + |
| Sudomotor function | ||||||
| Thermal/sympathetic sweat response | Absent | Absent | Absent | np | Absent | Absent |
| Pupillary responses | ||||||
| Supersensitivity to 1.25% NA instillation (60 min) | Normal | + | + | Normal | + | + |
| Supersensitivity to 0.125% pilocarpine instillation (30 min) | Normal | + | + | + | + | np |
| Peripheral nerve examination | ||||||
| Nerve conduction studies | ||||||
| Median, ulnar, tibial, sural nerves | Normal | Normal | Normal | Normal | Normal | Decreased SNAP |
| Sural nerve biopsy | ||||||
| Light microscopy: decreased fibre density | + | np | + | + | + | np |
| Electron microscopy (compared with control) | Np | np | Small myelinated 7%, unmyelinated 3% | np | Small myelinated 26%, unmyelinated 9% | np |