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Table 2 Patient’s phenomenology, clinical features and course

From: Shedding light on the phenotypic–genotypic correlation of rare treatable and potentially treatable pediatric movement disorders

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

  1. BFIC benign familial convulsions, EA episodic ataxia, PKC paroxysmal kinesigenic choreoathetosis
  2. aPublished in Ali A. et al. Genes[10]