Patient | Phenomenology | Onset | Duration | Frequency of events | Triggers | Associated symptoms | Associated signs | Ambulation/Course |
---|---|---|---|---|---|---|---|---|
P1 | 1-BFIC 2-PKC 3-EA | Acute Episodic Episodic | 3–5 min 1–2 min 10–15 days | 2–3/week 5–8/day 1–2/year | No Physical exertion No | Slurred speech | Sneezing/yawning following the event Intention tremors | Ambulatory/static |
P2 | Exercise induced dyskinesia | Episodic | 30 min | Once/week | Exercise Fasting Febrile illness | Poor balance and fine motor skills | Paroxysmal eye movements Appendicular hypotonia Intension tremors | Ambulatory/static |
P3 | Dystonia (facial and whole body) | Episodic | 1–4 h | 4–8/day | Diurnal variation Lack of sleep Febrile illness | Sleep disturbance Agitation Nasal congestion Constipation Excessive sweating and salivary secretions | Autonomic instability with hypotension Oculogyric crises Bilateral ptosis Truncal hypotonia Appendicular hypertonia | Non-ambulatory/progressive |
P4 | Dystonia | Mixed | 10–15 min | 3–6/day | Emotional excitement or fear | Skin dryness Weakness Frequent falling Abnormal gait | Eczema Proximal muscle weakness Brisk reflexes in the lower extremities Spasticity in lower extremities Bilateral feet deformity | Ambulatory with difficulties/progressive |
P5 | Exercise induced dyskinesia, muscle cramps and pain | Episodic | Hours-days | 1–2/week | Exercise | Droopy eye lids and 2ry inability to walk during childhood Left sided facial and neck twitching | Proximal weakness in the lower extremities Positive Gower sign following exercise Brisk reflexes in the upper extremities Absent ankle reflexes | Ambulatory/static |
P6a | 1-Ataxia 2-Refractory seizures 3-Psychomotor regression | Acute | Throughout the day | Daily | Febrile illness Valproic acid | Feeding difficulties and constipation during infancy Psychomotor regression Poor fine motor skills | Microcephaly Slurred speech Mild generalized hypotonia Proximal muscle weakness | Walk but cannot run or jump/static |