Disease Description (Causes and Symptoms)
Definition and Pathophysiology
- A general term for motor function disorders caused by non-progressive (non-worsening) damage to the developing brain. Depending on the location and timing of the damage, various clinical patterns may appear, including increased muscle tone (spastic type), athetoid or involuntary movements (dyskinetic type), ataxic type, or mixed type. Causes (Major Risk Factors)
- Occurs mainly during the antenatal or perinatal period (before or during birth). Approximately 10% of cases occur postnatally.
- Possible causes include premature or low-birth-weight birth (especially birth weight <1,000 g), hypoxia (asphyxia) during delivery, severe jaundice (kernicterus), fetal or maternal infections (such as rubella and syphilis), congenital malformations, genetic or metabolic abnormalities, and maternal drug, alcohol, or toxin exposure. Main Symptoms
- Delayed motor development (delayed sitting, crawling, or walking), abnormal muscle tone (excessive spasticity or hypotonia), asymmetric movements, persistent primitive reflexes, and abnormal gait (toe walking, posterior pelvic tilt, etc.).
- Associated symptoms: cognitive impairment (approximately 30–50%), epilepsy (approximately 30%), speech and communication disorders (some problems in approximately 80%), hearing abnormalities (approximately 20%), and vision problems (strabismus or visual field defects), among others.
Treatment Methods
Goals
- Achieve the greatest possible physical and functional independence, minimize secondary musculoskeletal changes (joint contractures and deformities), and manage associated problems (spasticity, speech, nutrition, etc.). Non-Surgical Treatment
- Rehabilitation therapy (essential): physical therapy (strengthening, range of motion, and gait training), occupational therapy (upper-limb function and activities of daily living), speech and swallowing therapy, and psychological, educational, and social support. Family education and continuous exercise at home are important.
- Assistive devices: Orthoses (ankle-foot orthoses and walkers), wheelchairs, and other assistive devices can help maintain walking and posture and prevent deformities.
- Medication: Control of spasticity and seizures
- Muscle relaxants: oral baclofen, dantrolene, and benzodiazepines (e.g., diazepam) — caution is required regarding side effects such as drowsiness and sedation.
- Local injections of botulinum toxin (Botox): Relief of focal spasticity; the effect usually lasts for several months.
- Anticonvulsants: For the management of coexisting epilepsy (medication selection is individualized).
- Nerve block: Temporary nerve blockade using injected alcohol or phenol (caution: pain and side effects may occur). Surgical Treatment
- Orthopedic surgery: Muscle-tendon release and osteotomy of the muscles, pelvis, or lower extremities to correct deformities and improve function.
- Neurosurgery: Selective Dorsal Rhizotomy (SDR) — reduction of spasticity and improvement in gait may be expected in selected cases.
- Continuous intrathecal baclofen pump (rehabilitation medicine/neurosurgery): May reduce systemic side effects and control spasticity over the long term. Precautions (Risk of Complications and Self-Management)
- Respiratory problems (aspiration pneumonia), nutritional problems (feeding and weight), skeletal deformities (joint contractures and scoliosis), pressure sores, and psychosocial problems may occur as complications.
- When taking medication, check for side effects such as drowsiness and respiratory depression as well as drug interactions. Rehabilitation should be combined after Botox injections or surgery to maximize the effect.
- Regular growth and developmental assessments and orthopedic follow-up are necessary.
Outpatient Visit Checklist (Preparation and Example Questions)
Recommended Items to Bring
- A list of currently used medications and doses (prescriptions or medication packaging)
- Previous test results (brain MRI/CT, EEG, evoked potential tests, etc.) and copies of imaging studies (digital files if possible)
- Recent records of rehabilitation therapy, surgery, or Botox procedures
- Photos showing the use of orthoses (lower-limb orthoses or wheelchair) or a description of their current condition
- Growth records (weight and height), feeding patterns, and notes related to aspiration risk
- Seizure (epilepsy) records (frequency, duration, and triggers) and observations of changes in consciousness Symptom Records That Are Helpful to Explain to the Doctor During the Visit
- When the symptoms began and their course (whether developmental milestones were delayed)
- Recent functional changes (walking, speaking, sleeping, eating, urination, and bowel movements)
- Whether pain, fatigue, or sleep problems are present Simple Example Questions (for Patients and Caregivers to Prepare)
- “Has the walking pattern changed recently? When did it become more uncomfortable?”
- “When does the main discomfort (spasticity, pain, or difficulty swallowing) become worse?”
General Example Questions to Ask the Doctor
- “What treatment priorities do you recommend to improve this patient’s motor function?”
- “What are the main side effects of the prescribed medications, and how will monitoring be performed?”
- “Which treatment among Botox, nerve block, and surgery is appropriate for my child? What are the expected benefits and risks?”
- “How is the prognosis (possibility of walking, cognition, and language development) assessed?”
- “What should the caregiver pay the most attention to in daily life?”
Examples of Condition-Specific Questions
- Regarding walking: “Considering the child’s current age and motor ability, how likely is independent walking? What specific exercises or orthoses do you recommend to help with walking?”
- Regarding seizure and medication management: “If the recent seizure pattern has changed, is medication adjustment necessary? What emergency measures should be taken when a seizure occurs?”
(Reference statistics and clinical features: intellectual disability approximately 30–50%, epilepsy approximately 30%, high frequency of speech disorders, approximately 75% have the possibility of walking — the possibility of walking varies by type)









