- Signs & Symptoms
- Risk Factors
- Is It a Disability?
- Caregiver Tips
- These episodes may last a few minutes or several days and can occur spontaneously or be triggered by certain stimuli, such as a change in temperature or stress.
- AHC is caused by mutations in genes that are important for the normal function of nerve cells in the brain. Moreover, it can be associated with other neurological symptoms, such as developmental delays, seizures, and difficulty with coordination and balance.
- The onset of AHC typically occurs in the first few months of life and the condition is lifelong.
How rare is alternating hemiplegia of childhood?
Alternating hemiplegia of childhood (AHC) is a rare condition. The exact prevalence of AHC is not known, but it is estimated to occur in 1 in 1,000,000 to 1 in 2,500,000 births. It is usually characterized by recurrent episodes of temporary paralysis or hemiplegia, which affects one or both sides of the body.
What are the signs and symptoms of alternating hemiplegia of childhood?
Alternating hemiplegia of childhood (AHC) affects the nervous system and can cause a variety of signs and symptoms. The signs and symptoms of AHC can vary greatly from person to person and range from mild to severe.
The following are some of the most common signs and symptoms of AHC:
- Hemiplegia: This is the most prominent symptom of AHC and refers to weakness or paralysis on one side of the body. This can occur suddenly and can last a few minutes or several days.
- Choreoathetosis: Refers to involuntary, spastic movements of the limbs, often accompanied by muscle stiffness. These movements can be unpredictable and can cause difficulty with fine motor tasks.
- Epileptic seizures: AHC can cause seizures, which can take the form of tonic-clonic seizures, absence seizures, or myoclonic seizures.
- Developmental delays: Children with AHC may experience delays in reaching developmental milestones, such as crawling, walking, or talking.
- Speech and language delays: Children affected with AHC may have speech and language difficulties and may find it difficult to express themselves or understand others.
- Visual disturbances: Some children with AHC may experience visual disturbances, such as double vision and difficulty focusing their eyes.
- Cognitive impairment: AHC may cause cognitive impairment, which can affect their ability to learn and reason.
- Sleep disturbances: Children with AHC may have difficulty sleeping and experience night-time seizures or sleepwalking.
- Autonomic dysfunction: People diagnosed with AHC may experience autonomic dysfunction, affecting their ability to regulate their body temperature, blood pressure, or heart rate.
- Migraine headaches: Children with AHC may experience migraines, which can cause severe headaches and visual disturbances.
Not every individual with AHC will experience all these symptoms, and they may vary in severity. A proper diagnosis of AHC should be done by a specialist after a comprehensive examination.
Does alternating hemiplegia of childhood affect intelligence?
Although alternating hemiplegia of childhood (AHC) can affect a child's physical abilities, it is not typically associated with a significant impact on intelligence. Most children with AHC have normal cognitive development and intelligence. Hemiplegia, paralysis of one half of the body, typically does not affect intelligence. The brain is not directly affected by paralysis, so cognitive function should be normal.
However, in some cases, children with AHC may experience developmental delays or learning difficulties because of the disorder, particularly if they have severe or frequent episodes of weakness, paralysis, or associated conditions, such as seizures or speech difficulties.
Some may have more severe symptoms and may experience more significant developmental delays or learning difficulties, whereas others may have milder symptoms and may not be affected as much.
Families of children with AHC should work closely with healthcare professionals such as neurologists, developmental pediatricians, and physical and occupational therapists to monitor the child's development and provide appropriate interventions to help them reach their full potential.
How does alternating hemiplegia of childhood affect speech?
Speech can be affected in individuals with alternating hemiplegia of childhood (AHC) in several ways. Muscle weakness or paralysis on one side of the face can make it difficult for the individual to move the lips, tongue, and other muscles used for speech. This can result in slurred speech, difficulty with articulation, and producing certain sounds.
Additionally, episodes of weakness or paralysis on one side of the body can affect the individual's ability to breathe properly, which can impact speech. Breathing difficulties can make it difficult for the individual to speak for long periods or to speak at a normal volume.
In some cases, AHC can lead to developmental delays in speech and language as the child may have difficulty with oral motor skills and coordination needed for speech development.
Individuals with AHC should receive regular speech and language therapy to help manage any speech or language difficulties that may arise from the disorder.
What causes alternating hemiplegia of childhood?
Alternating hemiplegia of childhood (AHC) affects muscle control and movement. The exact causes of AHC are not fully understood, but several potential causes have been identified. These include:
- Genetic mutations: AHC is often caused by mutations in the ATP1A3 gene, which provides instructions for making a protein that plays a role in the movement of ions across cell membranes. These mutations can disrupt the protein's normal functioning, leading to muscle control and movement problems.
- De novo mutations: A de novo mutation is a new mutation that is not inherited from a parent. These mutations occur spontaneously in the egg or sperm cells or in the early stages of development and can lead to AHC.
- Environmental factors: Some studies have reported that certain environmental factors, such as exposure to certain chemicals or toxins, may increase the risk of AHC. However, more research is required to confirm these findings.
- Immune-mediated: Some cases of AHC are thought to be caused by an abnormal immune response that attacks healthy cells in the brain. This can lead to inflammation and damage to the brain and nervous system.
- Other genetic disorders: AHC can be caused by mutations in other genes involved in brain development, such as SLC2A1, SLC9A6, and SCN1A.
In many cases, the cause of AHC is unknown, and further research is required to understand this disorder fully.
Is alternating hemiplegia of childhood caused by brain damage?
In most cases, alternating hemiplegia of childhood (AHC) is caused by a genetic mutation that affects the function of certain genes involved in the development and function of the brain. These mutations can cause the brain to develop abnormally, leading to the characteristic symptoms of AHC.
There is evidence that brain damage in AHC is caused by the abnormal development of the brain stem, which is the region of the brain that connects the spinal cord to the rest of the brain. This abnormal development can lead to problems with the function of the brain stem, which can affect the ability of the brain to control muscle movement, balance, and coordination.
Additionally, some studies report that AHC may additionally be caused by abnormal function of certain neurotransmitters, which are chemicals that transmit signals between nerve cells in the brain. Specifically, there is evidence that the abnormal function of the neurotransmitter glutamate may contribute to the symptoms of AHC.
Overall, it is believed that AHC is caused by a combination of genetic and environmental factors that lead to brain damage and abnormal brain development, resulting in the characteristic symptoms of the disorder.
What chromosome is alternating hemiplegia of childhood found on?
The genetic cause of alternating hemiplegia of childhood (AHC) is mutations in the ATP1A3 gene, which is located on chromosome 19. The ATP1A3 gene provides instructions for making a protein called the alpha-3 subunit of the Na+/K+-ATPase enzyme. This enzyme is responsible for pumping sodium (Na+) and potassium (K+) ions across cell membranes, which is essential for maintaining proper cell function and electrical signaling in the nervous system.
Mutations in the ATP1A3 gene can lead to dysfunction of the Na+/K+-ATPase enzyme, which can affect the normal electrical signaling in the brain, leading to the symptoms of AHC. The mutations can be inherited in an autosomal dominant manner, which means that an affected person has a 50 percent chance of passing the mutation on to each of their children.
In many cases, AHC is caused by de novo mutations, which means mutations occur for the first time in the affected individual and are not inherited from their parents.
Who is at a risk of alternating hemiplegia of childhood?
Alternating hemiplegia of childhood (AHC) affects about one in a million individuals. The condition is characterized by episodes of weakness or paralysis on one side of the body (hemiplegia), which can alternate between sides. The episodes can be triggered by various factors, such as stress, fatigue, or temperature changes.
The following groups of people are at risk of AHC:
- Infants and young children: AHC usually presents itself in the first few months of life and is mostly diagnosed in infants and young children.
- Individuals with a family history of AHC: AHC can be inherited in an autosomal dominant manner, meaning that if a parent has the condition, there is a 50 percent chance that each of their children will also have it.
- Individuals with mutations in the ATP1A3 gene: AHC is caused by mutations in the ATP1A3 gene, which provides instructions for making a protein that is important for the normal functioning of nerve cells. Individuals with mutations in this gene have an increased risk of developing AHC.
- Individuals with other genetic conditions: AHC can be associated with other genetic conditions such as familial hemiplegic migraine and episodic ataxia type II.
- Environmental factors: Some environmental factors, such as viral infections or exposure to certain toxins, may increase the risk of AHC.
- Premature birth: Being born prematurely is a risk factor for AHC. Some studies have reported that premature infants are more likely to develop AHC than full-term infants.
- Other medical conditions: Some other medical conditions, such as brain damage, cerebral palsy, or developmental delay, are associated with an increased risk of AHC.
In summary, AHC is caused by genetic mutations, has a familial inheritance pattern, and may be associated with environmental factors, prematurity, and other medical conditions. Most people with AHC do not have a family history of the condition, and the genetic causes of the disorder are not yet fully understood.
How is alternating hemiplegia of childhood diagnosed?
The diagnosis of alternating hemiplegia of childhood (AHC) is based on specific symptoms and signs. Genetic testing may confirm the diagnosis, which can detect mutations in genes associated with AHC. In addition, other diagnostic tools may be used to rule out other conditions that can cause similar symptoms. However, genetic testing is the most definitive way to confirm AHC.
AHC can be diagnosed in the following ways:
- Clinical examination: A thorough physical examination is performed by a pediatric neurologist to assess the presence and severity of symptoms, such as muscle weakness, stiffness, spasms, or any other neurological abnormalities.
- Medical history: The person’s medical history is evaluated to determine if there is a family history of the condition and to assess any previous episodes of hemiplegia.
- Imaging studies: MRI is typically used to assess the brain and spinal cord for any structural abnormalities that may be causing the symptoms.
- Electroencephalography (EEG): An EEG is performed to evaluate the brain's electrical activity, which can rule out other conditions that may cause similar symptoms.
- Genetic testing: A genetic test is done to confirm the diagnosis. A mutation in the ATP1A3 gene is found in most cases of AHC. Genetic testing is essential for diagnosis and genetic counseling.
- Blood and urine tests: Are done to rule out other conditions that may be causing the symptoms, such as metabolic disorders.
- Video-EEG monitoring: This test is used to record hemiplegic events in real-time (EEG recordings of people who have a hemiplegic stroke) and identify the specific type of seizures causing the symptoms. The diagnosis of AHC is often challenging because the symptoms can vary greatly among affected individuals and resemble other neurological conditions. Therefore, a combination of these diagnostic tools is used to confirm the diagnosis.
How is alternating hemiplegia of childhood treated?
There are currently no specific treatments for alternating hemiplegia of childhood (AHC), but a variety of therapy options can help manage symptoms and improve quality of life.
- Physical therapy: Can help improve muscle strength, coordination, and function. Therapists may use exercises, stretches, and other techniques to help children with AHC develop better motor skills and coordination.
- Occupational therapy: This can help children with AHC develop the skills they need to perform daily activities, such as dressing, eating, and writing.
- Speech therapy: This can help children with AHC improve their communication skills, such as speech and language development.
- Medications: Various medications have been used to try and help with the symptoms of AHC, including anticonvulsants, antispasmodic, and botulinum toxin. These medications can help reduce the frequency and severity of episodes of hemiplegia, but they may not be effective for all children with AHC.
- Botulinum toxin injection: Is used to reduce muscle spasms and stiffness. This can be used to help prevent contractures and improve mobility.
- Intrathecal baclofen therapy: Uses a small pump that is surgically implanted under the skin. The pump delivers a medication called baclofen (antispasmodic agent) directly to the spinal cord, which can help reduce muscle stiffness and spasms.
- Gene therapy: Is currently being researched as a potential treatment for AHC. The goal of gene therapy is to replace the missing or malfunctioning gene (that causes AHC) with a functioning gene.
- Surgery: Surgical intervention may be considered for certain cases, such as dystonia, spasticity, or refractory seizures.
Additionally, some children with AHC may benefit from adaptive equipment or assistive technology. Early intervention and close monitoring by a team of specialists are important to ensure the best possible outcome for individuals with AHC. Each child with AHC may have unique symptoms and respond differently to various therapies, so it's important to work with a team of healthcare professionals to develop a treatment plan tailored to the individual child's needs.
Does alternating hemiplegia of childhood go away?
Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by episodes of weakness or paralysis on one or both sides of the body. The severity and frequency of these episodes can vary greatly among individuals. Some people with AHC may experience occasional episodes, whereas others may have frequent and severe episodes.
There is no cure for AHC and the long-term prognosis can vary depending on the specific characteristics of the disorder. Some people with AHC may experience improvement over time, whereas others may continue to have significant symptoms.
Can you grow out of alternating hemiplegia of childhood?
Alternating hemiplegia of childhood (AHC) is a neurological disorder that affects the muscles and movement of the body. The exact cause of AHC is unknown, but it is believed to be related to a problem with the brain stem or cerebellum.
Some people with AHC may have episodes that become less frequent or less severe as they get older, but for most individuals, the disorder is lifelong. Every individual with AHC is affected differently, so it's best to discuss with a doctor or an ACH specialist to know more about the specific case.
Is alternating hemiplegia of childhood considered a disability?
Alternating hemiplegia of childhood (AHC) is considered a disability because it affects an individual's ability to perform daily activities and can impact their quality of life. It may affect a person's ability to work or participate in daily life. The episodes of weakness or paralysis can make it difficult for a person to move, speak, eat, or perform other basic tasks. Additionally, the unpredictability of the episodes can make it difficult to plan for daily activities and cause anxiety and stress.
The extent of the disability depends on the severity of the hemiplegia, the individual's overall health, age, and other factors. Rehabilitation and assistive devices can help people with hemiplegia improve their function and independence.
How can you help a child with alternating hemiplegia of childhood?
Alternating hemiplegia of childhood (AHC) affects muscle control and movement on one or both sides of the body. It can cause weakness, stiffness, and spasms in the limbs, as well as other symptoms such as seizures, developmental delays, and difficulty with coordination and balance.
Here are some ways you can help a child with AHC:
- Work with a team of healthcare professionals: AHC is a complex disorder and your child will likely need to see a variety of specialists, including a neurologist, physical therapist, occupational therapist, and speech therapist, who have extensive experience and specialize in caring for children with AHC. By working with a team of healthcare professionals, you can ensure that your child is getting the best possible care.
- Encourage therapy and exercise: Physical therapy can help your child improve muscle strength, coordination, and balance, whereas occupational therapy can help them with fine motor skills and daily living activities. Encourage your child to participate in therapy and exercise programs as it can help improve their ability to move and function.
- Help with communication: Many children with AHC have difficulty communicating due to speech and language delays. Speak with your child’s speech therapist as they may recommend strategies to help your child communicate more effectively.
- Provide emotional support: Living with a rare disorder can be difficult for you and your child. Be there to listen and offer emotional support and consider getting professional counseling for yourself and your child to help cope with the stresses of AHC.
- Educate yourself and others: Learn as much as possible about AHC and share this information with family, friends, and teachers so that they can understand the disorder and how to best support your child.
- Research for new treatments: AHC is a rare disorder and new treatments and therapies are constantly being developed. Keep up to speed with new treatment options and research studies, and discuss with your healthcare team if they may be appropriate for your child.
By working closely with a team of healthcare professionals and providing emotional support, you can help your child lead a happy and fulfilling life.
Alternating Hemiplegia of Childhood https://rarediseases.org/rare-diseases/alternating-hemiplegia-of-childhood/?filter=ovr-ds-resources
Child Neurology: Alternating hemiplegia of childhood https://n.neurology.org/content/74/14/e57
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review https://journals.lww.com/md-journal/Fulltext/2022/08050/Alternating_hemiplegia_of_childhood__a_distinct.92.aspx
Alternating Hemiplegia https://unitedbrainassociation.org/brain-resources/alternating-hemiplegia/
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