Rett Syndrome

Reading Time: 2 min

Understanding Rett Syndrome

Rett syndrome is a rare neurodevelopmental disorder that primarily affects young girls. After a period of normal development, girls with Rett syndrome start regressing—losing skills like speech, hand use, and mobility. They also develop repetitive hand movements like wringing, clapping, or rubbing.

What Causes Rett Syndrome?

Around 95% of Rett syndrome cases are linked to mutations in the MECP2 gene which is crucial for normal brain development and communication between nerve cells. When MECP2 is mutated, nerve cells can’t mature properly leading to the symptoms of Rett syndrome. Research continues on how MECP2 mutations cause the disorder.

Rett Syndrome Signs and Symptoms

After typical development, Rett syndrome regression involves losing skills like:

  • Purposeful hand use
  • Speech
  • Mobility—stiff, awkward walking
  • Slowed head growth.
  • Repetitive hand movements

Other symptoms can include:

  • Breathing problems
  • Anxiety and behavior issues
  • Seizures
  • Sleep problems
  • Scoliosis and muscle tone issues
  • Difficulty sensing pain or temperature

Diagnosing Rett Syndrome

Diagnosis involves:

  • Developmental history
  • Physical exam for symptoms
  • Genetic testing for MECP2 mutations
  • Monitoring progression over time

Start Treatment Immediately

Though no cure exists, early treatment is crucial. We can help manage symptoms and improve quality of life through:

  • Targeted medications
  • Specialized therapies
  • Coordinated care with neurology, orthopedics, and pulmonology.
  • Ongoing support for the entire family

Research provides hope for future treatments targeting the underlying causes of Rett syndrome. With dedicated care, many girls can enjoy an improved quality of life.

Connect with organizations like the International Rett Syndrome Foundation to get support and stay updated on Rett syndrome research and treatment. Early intervention is key, so act quickly if your child shows symptoms.

Research continues into gene therapy, medications, and compounds that may help treat the underlying causes of Rett syndrome in the future.

Early intervention and dedicated care remain vital for the best outcome for girls with Rett syndrome. With comprehensive management, many can enjoy an improved quality of life.

Coping with a rare disorder like Rett syndrome is challenging. But you don’t have to do it alone. Our compassionate nurse practitioner has specialized training in pediatric neurodevelopmental conditions.

Schedule an appointment today to get answers and start your child on the path to her best possible quality of life. Call 301-330-0006 or book online at alldaymedicalcare.com.

All Day Medical Care Clinic Team

Autor

All Day Medical Care Clinic Team

This article was prepared with the All Day Medical Care Clinic Team and its experienced clinic providers, ensuring accurate and reliable health information.

How to Cope with Chronic Illness During the Holiday Season

How to Cope with Chronic Illness During the Holiday Season

10 Critical Dehydration Signs & Prevention Tips

10 Critical Dehydration Signs & Prevention Tips

Can You Get Sick From The Flu Shot?

Can You Get Sick From The Flu Shot?

Understanding What a Weight Management Program Involves

Understanding What a Weight Management Program Involves

6 Benefits of Group Therapy

6 Benefits of Group Therapy

How to Know if You Have an Urgent Care Need

How to Know if You Have an Urgent Care Need

7 Habits for Your Heart-Healthy Living

7 Habits for Your Heart-Healthy Living

Your Complete Guide to Men’s Health Screenings by Ages

Your Complete Guide to Men’s Health Screenings by Ages

Understanding Blood Pressure Readings

Understanding Blood Pressure Readings

Work Injury? Get Evaluated and Plan Your Recovery

Work Injury? Get Evaluated and Plan Your Recovery

How To Deal With Pet Allergies: Tips and Tricks

How To Deal With Pet Allergies: Tips and Tricks

12 Common Illnesses that Peak in the Fall 

12 Common Illnesses that Peak in the Fall 

When Should I Go to the ER Instead of Urgent Care?

When Should I Go to the ER Instead of Urgent Care?

How Often Should I Get a Physical?

How Often Should I Get a Physical?

The Importance of Well-Baby Care

The Importance of Well-Baby Care

STD Awareness: Popular Questions, Advice, Treatments

STD Awareness: Popular Questions, Advice, Treatments

What STD Tests Should I Consider?

What STD Tests Should I Consider?

What is Croup?

What is Croup?

Overcoming Trauma: Finding Light in the Darkness

Overcoming Trauma: Finding Light in the Darkness

Home-Based Child Behavioral Disorder Help

Home-Based Child Behavioral Disorder Help

Why Relationships Are Key to Well-Being

Why Relationships Are Key to Well-Being

Should I Be Tested for COVID-19?

Should I Be Tested for COVID-19?

Understanding Your Options for Mental Health Treatment

Understanding Your Options for Mental Health Treatment

Importance of Mental Health Awareness for Healthcare Workers

Importance of Mental Health Awareness for Healthcare Workers

The Importance of Getting Your Women’s Health Screening

The Importance of Getting Your Women’s Health Screening

Erectile Dysfunction – Everything You Need to Know

Erectile Dysfunction – Everything You Need to Know

Types of Work Injuries

Types of Work Injuries

What is RSV (Respiratory Syncytial Virus)

What is RSV (Respiratory Syncytial Virus)

Mastering ADHD: Strategies for Adults in Daily Life

Mastering ADHD: Strategies for Adults in Daily Life

How Stress Can Increase Your Risk for Heart Disease

How Stress Can Increase Your Risk for Heart Disease

What are Anger Issues?

What are Anger Issues?

Effective Heat Rash Treatment and Prevention

Effective Heat Rash Treatment and Prevention

How Setting Goals Can Positively Impact Our Mental Health

How Setting Goals Can Positively Impact Our Mental Health

9 Ways to Boost Your Immunity This Fall

9 Ways to Boost Your Immunity This Fall

Flu Season Is Here: Answers to Frequently Asked Questions

Flu Season Is Here: Answers to Frequently Asked Questions

 Rett Syndrome

 Rett Syndrome

Top 10 Tips to Manage Blood Pressure & Prevent Hypertension

Top 10 Tips to Manage Blood Pressure & Prevent Hypertension

What is Pink Eye (Conjunctivitis)?

What is Pink Eye (Conjunctivitis)?

Secondary Trauma: Help Others, Protect Yourself

Secondary Trauma: Help Others, Protect Yourself

The Differences Between Flu and COVID-19

The Differences Between Flu and COVID-19

15 Ways to Keep Your Brain Young and Healthy

15 Ways to Keep Your Brain Young and Healthy

The Importance of Self-Care In Managing Stress

The Importance of Self-Care In Managing Stress

The Top 7 Benefits of Choosing Telehealth for Your Family

Understanding Hepatitis B: Protecting Your Health and Future

Understanding Anxiety: What Is It?

Understanding Anxiety: What Is It?

Heart Health Screenings: Everything You Need to Know

Heart Health Screenings: Everything You Need to Know

See Your Doctor from the Comfort of Your Home

See Your Doctor from the Comfort of Your Home

5 Signs Your Anxiety is Problematic

5 Signs Your Anxiety is Problematic

Are Your Immunizations Up-to-Date?

Are Your Immunizations Up-to-Date?

Noncardiac Chest Pain: Symptoms, Causes and Treatments 

Noncardiac Chest Pain: Symptoms, Causes and Treatments 

This will close in 0 seconds

We'll text you

Enter your info and we’ll text you shortly.

By clicking Send, I agree to the Privacy Policy and Terms of Use, and I consent to receiving text messages from this practice acknowledging that data rates may apply. Message frequency varies.