Table 4 Other first symptoms and symptoms present before diagnosis (including first symptoms)
Patients, n (%) | Late infantile (N = 10) | Early juvenile (N = 5) | Late juvenile (N = 2) | Adult onset (N = 3) | ||||
|---|---|---|---|---|---|---|---|---|
First symptoms | Symptoms before diagnosis | First symptoms | Symptoms before diagnosis | First symptoms | Symptoms before diagnosis | First symptoms | Symptoms before diagnosis | |
Skeleton, muscles, or joints Dystonia Hypotonia Hip subluxation Scoliosis Spasticity or hypertonia None of the above symptoms | 1 (10) 5 (50) - - 4 (40) 3 (30) | 5 (50) 6 (60) - - 6 (60) 3 (30) | - 1 (20) - - 1 (20) 4 (80) | - 1 (20) - - 1 (20) 4 (80) | - - - - 1 (50) 1 (50) | - - - - 1 (50) 1 (50) | - - - - - 3 (100) | 1 (33) 1 (33) 1 (33) 1 (33) 1 (33) 2 (67) |
Eyesight Vision difficulties (glasses needed) Blindness None of the above symptoms | 2 (20) - 8 (80) | 5 (50) - 5 (50) | - - 5 (100) | - - 5 (100) | - - 2 (100) | - - 2 (100) | - - 3 (100) | - 1 (100) 2 (67) |
Hearing Hearing difficulties (hearing aid needed) Deafness None of the above symptoms | - - 10 (100) | - - 10 (100) | - - 5 (100) | - - 5 (100) | - - 2 (100) | - - 2 (100) | - - 3 (100) | - 1 (100) 2 (67) |
Behavioural symptoms Challenging or difficult behaviour Hyperactivity and/or repetitive behaviour No awareness of danger Change in personality None of the above symptoms | - - - - 10 (100) | - - - - 10 (100) | 3 (60) 2 (40) 3 (60) 3 (60) 1 (20) | 3 (60) 2 (40) 3 (60) 3 (60) 1 (20) | - - - - 2 (100) | - - - - 2 (100) | 2 (67) 1 (33) 2 (67) 3 (100) - | 3 (100) 1 (33) 2 (67) 3 (100) - |
Cognitive symptoms Confusion or disorientation Learning issues Memory and concentration issues Dementia None of the above symptoms | - 2 (20) 1 (10) - 8 (80) | 1 (10) 3 (30) 4 (40) - 6 (60) | 1 (20) 3 (60) 3 (60) - 1 (20) | 1 (20) 5 (100) 3 (60) - - | - 1 (50) - - 1 (50) | - 2 (100) 1 (50) - - | 2 (67) 2 (67) 3 (100) 1 (33) - | 2 (67) 2 (67) 3 (100) 2 (67) - |
Neurological symptoms Anxiety or panic Issues with temperature regulation Peripheral neuropathy Seizures/epilepsy Sensory processing issues Sleep disturbance Uncontrollable crying None of the above symptoms | 1 (10) 1 (10) 2 (20) 1 (10) 1 (10) 1 (10) 2 (20) 6 (60) | 5 (50) 3 (30) 2 (20) 2 (20) 3 (30) 4 (40) 4 (40) 3 (30) | 1 (20) 1 (20) 1 (20) - 1 (20) 2 (40) 2 (40) 1 (20) | 1 (20) 2 (40) 2 (40) - 1 (20) 2 (40) 3 (60) - | - - - - - - - 2 (100) | - - - - - 1 (50) - 1 (50) | - - - - - 1 (33) - 2 (67) | 1 (33) 1 (33) 1 (33) 2 (67) 1 (33) 2 (67) - 1 (33) |
Gallbladder issues Gallbladder issues | - | 2 (20) | - | 1 (20) | - | - | - | 1 (33) |
Chest and respiratory symptoms Aspiration Excess secretions Frequent chest infections Frequent colds or runny nose None of the above symptoms | 1 (10) 3 (30) 1 (10) 3 (30) 6 (60) | 3 (30) 4 (40) 2 (20) 3 (30) 6 (60) | - - - - 5 (100) | - - - - 5 (100) | - - - - 2 (100) | - - - - 2 (100) | - - - - 3 (100) | - - - - 3 (100) |