Table 1. LOPD clinical multisystem involvement and related investigations.
| Organ involvement | Clinical manifestations | Investigations |
|---|---|---|
| 1. Skeletal muscle | Exercise intolerance/fatigue | Clinical examination |
| Myalgia/hyperCKemia | EMG/ENG | |
| Axial and proximal muscles weakness (> lower limbs) | Muscle MRI | |
| Scapular winging | ||
| 2. Respiratory | Morning headache and sleepiness | PFT (FVC, MIP and MEP at upright and supine position) |
| Sleep apnoea | Polysomnography | |
| Shortness of breath | Respiratory muscles MRI | |
| Impaired cough | Bronchoscopy | |
| Dyspnea (more at supine position) | ||
| 3. Central nervous system/cerebrovascular system | Vertebrobasilar dolichoectasia | Angio-CT |
| Intracranial aneurysms | Angio-MRI | |
| Stroke | Brain MRI | |
| Cerebral hemorrhages | ||
| Lacunar encephalopathy | ||
| Sensorineural deafness | Audiometry | |
| 4. Cognitive and emotional | Mild cognitive impairment | Neuropsychological battery tests |
| Anxiety/depression | ||
| Executive functions impairment | ||
| 5. Peripheral and autonomic nervous system | Paraesthesia at limb extremities | EMG/ENG |
| Burning feet | LEPS | |
| Skin biopsy | ||
| 6. Vascular system | Dilated arteriopathy | Vessels ultrasound |
| Aortic stiffness | Angio-TC | |
| Thoracic and basilar aortic aneurysms | ||
| 7. Heart | Rhythm disturbances | EKG |
| Cardiac hypertrophy | Heart ultrasound | |
| 8. Musculoskeletal and bone | Osteopenia/osteoporosis | Densitometry |
| Vertebral fractures | X-rays | |
| Rigid/bent spine syndromes | Bone MRI | |
| Scoliosis/kyphosis/hyperlordosis | X-rays | |
| 9. Dental-oro gastrointestinal and urinary | Macroglossia | Tongue ultrasound |
| Dysphagia | Gastrointestinal tests | |
| Early satiety | ||
| Chronic diarrhoea | ||
| Urinary/bowel incontinence | Urodynamic studies | |
| 10. Blood | PAS-positive vacuolated lymphocytes | Blood smear |
EMG, electromyography; ENG, electroneurography; MRI, magnetic resonance imaging; PFT, pulmonary function tests; FVC, forced vital capacity; MIP, maximum inspiratory pressure; MEP, maximum expiratory pressure; LEPS, laser evoked potentials.