Overview

Alexander's disease is a rare and progressive genetic disorder that affects the nervous system. It is characterised by the abnormal accumulation of a protein called GFAP in brain cells, leading to neurological symptoms such as developmental delays, muscle stiffness, and intellectual impairment. There is no cure for this debilitating disease.

It is a very rare neurological disorder, and it comes under leukodystrophy, which means it affects the white matter in the brain. This disease is responsible for destroying the fatty white matter, also known as Myelin. Myelin protects our brain's nerve fibres. It delivers the brain's nerve impulses throughout our body.

People who are affected with Alexander's Disease may suffer from epileptic episodes, issues with healthy development and many other issues. However, this disease is potentially life-threatening, and it gradually worsens.

Types of Alexander’s Disease

The types of Alexander’s Disease are divided into categories by the symptoms that appear, and the types are —

- Neonatal. It is when the disease shows symptoms from the first month of birth, which is rare.
- Infantile. The disease itself is sporadic, but among the cases reported, almost 80% happen before the child can cross the age of 2.
- Juvenile. The symptoms of Alexander's disease mainly occur between the ages of 4 and 10. However, when the symptoms appear between 2 and 13, it's called Juvenile-onset Alexander disease. This disease is present in almost 14% of the reported Alexander diseases.
- Adult. This is an uncommon type of Alexander disease, which doesn't have severe symptoms. It mainly develops after the teenage years. It only prevails in 6% of the reported Alexander disease cases worldwide.

Causes and Risk Factors of Alexander's Disease

A gene responsible for producing GFAP or glial fibrillary acidic protein mutates and creates Alexander's disease. The disease occurs 95% of the time because of the mutated gene, but the reason for the other 5% of the time is unknown.

Generally, the glial fibrillary acidic proteins combine to make filaments, which are long chains. These proteins help strengthen the cells of our nervous system. In an individual affected by Alexander's disease, Rosenthal fibres accumulate in their nervous system's cells, the atypical protein clumps. Rosenthal fibres cause harm to myelin.

Symptoms of Alexander Disease

There are a lot of different symptoms for the different types of Alexander disease, which are–

Neonatal Alexander Disease Symptoms

The symptoms of Neonatal Alexander Disease are —

Developmental issues
Fluid buildup in the child’s brain - Hydrocephalus
Enlarges head and brain - megalencephaly
Spasticity
Epilepsy or Seizures

Other than these, there are hindrances to the child's normal growth. They suffer to grow and thrive in the typical environment of a normal child as it takes effect from the first month of the child.

Infantile Alexander Disease

The symptoms of Infantile Alexander Disease are similar to the neonatal Alexander disease. This type of Alexander disease typically shows symptoms within 6 months, but the symptoms can occur as late as 2 years.

Juvenile onset Alexander Disease

Juvenile onset Alexander disease usually affects children of 4 to 10, and the symptoms of this type of Alexander Disease are

Not being able to speak or swallow properly
Issues with movement, balance, and coordination - Ataxia
Spasticity - muscle issues such as pain and spasms
Vomiting (often)

Adult-onset Alexander Disease

This type of Alexander disease is likely to appear at any time in adulthood. The symptoms of Adult-onset Alexander Disease are the same as Juvenile-onset Alexander Disease, apart from tremors.

Treatment of Alexander Disease

There is no cure for Alexander's disease, but providers help relieve the symptoms. The progression of this disease can also be slowed down with treatments. In clinical trials, researchers are trying their best to study promising therapies for this disease. You can ask your healthcare provider for advice on letting your child join the clinical trials. There are some treatments for the symptoms, which are —

- Physical and Occupational Therapy. These therapies help maintain mobility, manage muscle stiffness, and improve daily functioning.
- Speech and Language Therapy. For individuals with speech and swallowing difficulties.
- Medications. Some medications may be prescribed to manage symptoms such as seizures or muscle spasms.
- Assistive Devices. Mobility aids, communication devices, and adaptive equipment can enhance quality of life.
- Symptomatic Relief. Pain management and interventions to address respiratory or feeding issues.
- Regular Monitoring. Routine check-ups and assessments to track the progression of the disease and adjust treatment as needed.
- Shunt Surgery. Shunt surgery removes the fluid accumulated in the brain in the case of Hydrocephalus.

When to Consult a Doctor

Timely medical intervention can help cure many of these ailments or help in managing them. You can also get in touch with the expert Neurology doctors at Narayana Healthcare based in your city to get immediate attention and medical support to treat brain conditions, neurological disorders or any other health concern.

Conclusion

Alexander's disease is not hereditary but happens for unknown triggers and prevails throughout one's life, progressively getting worse. One can do genetic tests to determine whether this disease affects the individual. There is no cure, but treating the symptoms will provide a lot of comfort to the individual.

Reference Links

- https://my.clevelandclinic.org/health/diseases/6027-alexander-disease
- https://alextlc.org/what-is-a-leukodystrophy/the-different-leukodystrophies/alexander-disease-type-2/