Hope in Motion: Managing Rett Syndrome with Physiotherapy post thumbnail image

Best Rett Syndrome Treatment in Delhi

rett syndrome treatment and cure
Book Appointment

What is Rett Syndrome ?

It is a rare, severe genetic neurological disorder primarily affecting females. Characterized by normal early development followed by regression in communication, motor skills, and cognitive abilities (typically 6-18 months).

Causes
  • Primary Cause: Spontaneous mutation in the MECP2 gene (on X chromosome).
  • MECP2 Protein Function: Gene provides instructions for MeCP2 protein, critical for brain development, synaptic function, and gene regulation.
  • Dysfunctional Protein: Mutation leads to insufficient or non-functional MeCP2 protein, disrupting brain development.
  • Spontaneous: Most cases (>99\%) are new, random mutations, not inherited.
  • Males: Usually severely affected, often don’t survive infancy/early childhood due to single X chromosome.
  • Atypical Forms: Rarer, sometimes linked to other gene mutations (CDKL5, FOXG1).
Symptoms (Progressive Stages)
  • Stage I (6-18 months): Early Onset Stagnation
    • Subtle developmental slowing, decreased eye contact, reduced interest in toys.
    • Slowing head growth, hypotonia, feeding difficulties.
  • Stage II (1-4 years): Rapid Destructive/Regression
    • Hallmark: Rapid loss of purposeful hand use, spoken language, social interaction.
    • Stereotypic Hand Movements: Repetitive hand wringing, squeezing, clapping, tapping, mouthing.
    • Gait abnormalities (unsteadiness, toe-walking).
    • Breathing irregularities (hyperventilation/apnea while awake).
    • Irritability, sleep disturbances, social withdrawal.
  • Stage III (2-10 years+): Plateau/Pseudostationary
    • Reduced irritability, persistent hand stereotypies.
    • Limited improvements in communication (eye gaze may develop).
    • Common: Scoliosis, seizures.
    • Motor problems: Ataxia, apraxia, dystonia.
  • Stage IV (10 years+): Late Motor Deterioration
    • Progressive motor decline: Loss of ambulation (wheelchair use common).
    • Increased rigidity, spasticity, dystonia.
    • Severe scoliosis (often surgical).
    • Persistent communication difficulties.
    • Co-morbidities: GI issues, sleep, low bone density, teeth grinding, cardiac issues.
Advanced Physiotherapy
  • Early Intervention & Developmental Facilitation:-
    • ROM: Prevent contractures (passive/active-assisted stretches).
    • Postural Management: Specialized seating, standing frames, sleep systems for symmetrical alignment & scoliosis prevention.
    • Gross Motor: Facilitate rolling, sitting, crawling, standing through guided practice.
  • Addressing Motor Dysfunction & Apraxia:
    • Gait Training: Maintain/improve walking, balance (gait trainers, treadmills).
    • Balance & Coordination: Exercises on varied surfaces.
    • Core & Strength: Targeted strengthening to counter weakness/spasticity.
    • Proprioceptive/Sensory: Enhance body awareness (textured surfaces, weighted items).
  • Scoliosis Management:
    • Postural Exercises: Strengthen back muscles.
    • Bracing: Proper fitting & adherence to slow progression.
    • Standing Programs: Regular use for weight-bearing, bone density, muscle stretching.
    • Pre/Post-Surgical Rehab: Optimize outcomes if surgery is needed.
  • Airway Clearance & Breathing Techniques :
    • Breathing Exercises: Controlled patterns for hyperventilation/apnea
    • Gentle ACTs: (If mucus present) Percussion, vibrations, assisted cough.
  • Hand Function & Stereotypies:
    • Hand Use: Encourage any purposeful hand movements.
    • Sensory Input: Provide varied textures to hands.
    • (Sometimes) Weighted cuffs/splints to reduce stereotypies.

BOOK AN APPOINTMENT

Working Hours

Mon - Sat: 9:00AM to 8:30PM
Sunday: 9:30AM to 7:30PM

Call Us

+91 8090080906
+91 8090080907
+91 8866991000




    Add Your Heading Text Here

    Want to be a physical therapist ? Check Physioneeds Academy