Peru declares health emergency after surge in Guillain-Barré Syndrome cases — more on this rare neurological disorder

Syndrome Cases More on This Rare Neurological Disorder

Neurological disorders are diseases of the brain, spine, and nerves that affect the nervous system. They can be caused by diverse disease processes, inherited factors, or unknown reasons. They often affect children, are congenital, and may cause severe disability and dementia¹.

Some examples of rare neurological disorders are:

- Creutzfeldt Jakob Disease

- Reflex Sympathetic Dystrophy Syndrome

- Agnosia

- Aicardi syndrome

- Cerebellar ataxias

- Huntington’s disease

- Pick's Disease

- Batten Disease

In this article, we will focus on one of the rarest and most severe neurological disorders: Rett Syndrome.

What is Rett Syndrome?

Rett Syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops. This disorder causes a progressive loss of motor skills and language. Rett Syndrome primarily affects females.

Most babies with Rett Syndrome seem to develop as expected for the first six months of life. These babies then lose skills they previously had — such as the ability to crawl, walk, communicate or use their hands. Over time, children with Rett Syndrome have increasing problems with the use of muscles that control movement, coordination and communication. Rett Syndrome can also cause seizures and intellectual disabilities.

Unusual hand movements, such as repetitive rubbing or clapping, replace purposeful hand use. Although there's no cure for Rett Syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication, treating seizures, and providing care and support for children and adults with Rett Syndrome and their families.

What Causes Rett Syndrome?

Rett Syndrome is caused by a mutation in a gene called MECP2, which is located on the X chromosome. This gene is responsible for making a protein that regulates the activity of other genes in the brain. The mutation disrupts the normal function of the MECP2 protein, leading to abnormal brain development.

The mutation usually occurs randomly in early embryonic development and is not inherited from the parents. However, in rare cases, it can be passed down from a mother who carries a mutated copy of the MECP2 gene on one of her X chromosomes. The risk of having a child with Rett Syndrome is about 1 in 10,000 live female births.

What are the Symptoms of Rett Syndrome?

The symptoms of Rett Syndrome vary greatly from child to child. The most pronounced changes generally occur at 12 to 18 months of age, over a period of weeks or months. The main signs and symptoms include:

- Slowed growth: Brain growth slows after birth. Smaller than usual head size (microcephaly) is sometimes the first sign that a child has Rett Syndrome. As children get older, there is delayed growth in other parts of the body.

- Loss of movement and coordination abilities: The first signs often include reduced hand control and a decreasing ability to crawl or walk. At first, this loss of abilities occurs rapidly, and then it continues more gradually. Eventually muscles become weak or stiff, with unusual movement and positioning.

- Loss of communication abilities: Children with Rett Syndrome typically begin to lose the ability to speak, to make eye contact and to communicate in other ways. They may become disinterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of language. Over time, children may gradually regain eye contact and develop nonverbal communication skills.

- Unusual hand movements: Children with Rett Syndrome usually develop repetitive, purposeless hand movements, which differ from child to child. Hand movements may include hand-wringing, squeezing, clapping, tapping or rubbing.

- Other signs and symptoms can include:

    - Unusual eye movements: Children with Rett Syndrome tend to have unusual eye movements, such as intense staring, blinking, crossed eyes or closing one eye at a time.

    - Breathing problems: Children with Rett Syndrome may have irregular breathing patterns, such as holding their breath or hyperventilating while awake. They may also have sleep apnea or snoring while asleep.

    - Behavioral problems: Children with Rett Syndrome may have mood swings, irritability, anxiety, aggression or self-injury behaviors.

    - Cognitive problems: Children with Rett Syndrome may have learning difficulties,

    memory problems or intellectual disability.

    - Seizures: Children with Rett Syndrome may develop epilepsy or have episodes of convulsions or loss of consciousness.

    - Scoliosis: Children with Rett Syndrome may develop an abnormal curvature of the spine (scoliosis), which can affect their posture and breathing.

    - Heart problems: Children with Rett Syndrome may have abnormal heart rhythms or cardiac arrest, which can be life-threatening.

How is Rett Syndrome Diagnosed?

Rett Syndrome is diagnosed based on the clinical features and the genetic testing of the MECP2 gene. There is no specific test that can confirm or rule out Rett Syndrome, but the genetic testing can identify the mutation in most cases. However, some children may have a normal MECP2 gene but still have Rett Syndrome, or have a mutated MECP2 gene but not have Rett Syndrome. Therefore, the diagnosis also depends on the medical history and the physical examination of the child.

How is Rett Syndrome Treated?

There is no cure for Rett Syndrome, but there are treatments that can help manage the symptoms and improve the quality of life of the child and the family. The treatment plan may include:

- Medications: Medications can help control seizures, breathing problems, muscle stiffness, anxiety or depression. The type and dosage of medications may vary depending on the child's condition and response.

- Physical therapy: Physical therapy can help maintain or improve the child's muscle strength, flexibility, balance and coordination. It can also help prevent or delay scoliosis and joint contractures.

- Occupational therapy: Occupational therapy can help the child develop skills for daily living, such as feeding, dressing, grooming and using adaptive devices. It can also help the child cope with sensory issues and environmental stimuli.

- Speech therapy: Speech therapy can help the child communicate with others, using verbal or nonverbal methods, such as gestures, signs, pictures or devices. It can also help the child improve their oral motor skills and swallowing function.

- Behavioral therapy: Behavioral therapy can help the child manage their emotions, behaviors and social interactions. It can also help the child learn coping strategies and self-regulation skills.

- Educational support: Educational support can help the child access appropriate learning opportunities and resources, according to their abilities and needs. It can also help the child develop cognitive and academic skills.

- Family support: Family support can help the parents and caregivers understand the condition, access information and services, cope with stress and challenges, and provide care and love for the child. It can also help the siblings and other relatives deal with their feelings and concerns.

What are the Complications of Rett Syndrome?

Rett Syndrome is a progressive disorder that can cause serious complications over time. Some of the possible complications include:

- Respiratory infections: Children with Rett Syndrome are more prone to respiratory infections, such as pneumonia or bronchitis, due to their breathing problems and weakened immune system.

- Malnutrition: Children with Rett Syndrome may have difficulty eating or swallowing, which can lead to malnutrition or dehydration. They may also have gastrointestinal problems, such as constipation or reflux, which can affect their nutrition and digestion.

- Osteoporosis: Children with Rett Syndrome may have low bone density (osteoporosis), due to their lack of physical activity, hormonal changes or nutritional deficiencies. This can increase their risk of fractures or bone deformities.

- Sudden death: Children with Rett Syndrome may die suddenly without any apparent cause, possibly due to cardiac arrest or respiratory failure.

How to Prevent Rett Syndrome?

Rett Syndrome cannot be prevented, as it is caused by a random genetic mutation that occurs in early embryonic development. However, genetic counseling can help parents who have a child with Rett Syndrome or who are carriers of the MECP2 mutation to understand their risk of having another child with Rett Syndrome. Prenatal testing can also detect the presence of the MECP2 mutation in an unborn baby.

Conclusion

Rett Syndrome is a rare neurological disorder that affects mainly females and causes a progressive loss of motor skills and language. It is caused by a mutation in a gene called MECP2 on the X chromosome. The symptoms vary from child to child but usually include slowed growth, loss of movement and coordination abilities, loss of communication abilities, unusual hand movements and other problems affecting breathing, behavior, cognition, seizures, heart function and more. There is no cure for Rett Syndrome but there are treatments that can help manage the symptoms and improve the quality of life of the child and the family. Rett Syndrome is a serious condition that can cause severe disability and complications over time.

Source: 

(1) Rare Neurological Disorders | List of High Impact Articles | PPts .... https://www.imedpub.com/scholarly/rare-neurological-disorders-journals-articles-ppts-list.php.

(2) Rett syndrome - Symptoms & causes - Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/rett-syndrome/symptoms-causes/syc-20377227.

(3) What is Guillain-Barre syndrome? The rare neurological disorder declared as health emergency in Peru. https://www.msn.com/en-in/health/health-news/what-is-guillain-barre-syndrome-the-rare-neurological-disorder-declared-as-health-emergency-in-peru/ar-AA1dFBrG.

(4) How a simple blister was the first sign this little girl, 10, would become bedridden with one of the world's most rare and painful diseases. https://www.dailymail.co.uk/news/article-12279461/How-simple-blister-sign-little-girl-10-bedridden-one-worlds-rare-painful-diseases.html.

(5) Peru declares health emergency after surge in Guillain-Barré Syndrome cases — all you need about rare neurological disorder. https://www.cnbctv18.com/healthcare/peru-declares-emergency-after-surge-in-guillain-barr-syndrome-cases-all-you-need-about-rare-neurological-disorder-17174911.htm.

(6) 10 Rarest Brain (Neurological) Diseases in the World. https://rarest.org/people/brain-diseases.

FAQ's

What is the rarest neurological disorders?

Rare neurological diseases Adrenoleukodystrophy. Vertical gaze palsy. Kluver Bucy syndrome. Empty sella syndrome. Myoclonic status epilepticus. Tolosa-Hunt syndrome. HTLV-1 associated myelopathy. Prion diseases.

What is the rare nerve syndrome?

Guillain-Barré syndrome (GBS) is a rare neurological disorder in which your immune system mistakenly attacks part of the peripheral nervous system—the network of nerves located outside of the brain and spinal cord.

What is a rare neurological disorder in children?

Infantile neuroaxonal dystrophy (INAD) is a rare, inherited disorder of the body's nervous system. It affects axons, the part of a neuron (nerve cell) that carries messages from the brain to other parts of the body. INAD causes loss of vision, muscular control, and mental skills.

How rare is Guillain Barre Syndrome?

How common is GBS? GBS is rare. CDC estimates that only about 3,000 to 6,000 people develop GBS each year in the United States.