Can medical cannabis help with the symptoms of Friedreich’s Ataxia? Find out more below.
What is Friedreich’s Ataxia?
Friedreich’s ataxia (FA) is a rare, inherited neurodegenerative disorder that affects the nervous system, causing progressive damage to the spinal cord, cerebellum, and peripheral nerves. It is named after the German physician Nikolaus Friedreich, who first described the condition in 1863. FA has many symptoms, including unsteadiness, lack of coordination, muscle weakness, impaired speech, vision and hearing loss, scoliosis, and heart disease. These symptoms typically appear during childhood or adolescence and worsen over time, leading to disability and loss of independence.
What is ataxia?
Ataxia is a neurological condition characterized by poor coordination, balance, and gait. It can affect various body systems and can be caused by various underlying conditions, including genetic disorders, brain injuries, infections, autoimmune diseases, and toxins.
Here are some of the different types of ataxia:
- Spinocerebellar ataxia: a group of inherited ataxias that affect the cerebellum and spinal cord
- Ataxia telangiectasia: a rare genetic disorder that affects multiple body systems, including the immune system, and increases the risk of cancer
- Episodic ataxia: a rare type of ataxia characterized by sudden episodes of ataxia that can last from minutes to hours
- Gluten ataxia: ataxia that occurs in people with celiac disease or gluten sensitivity
- Posterior cortical atrophy: a rare neurodegenerative disorder that affects the occipital and parietal lobes of the brain and can cause visual disturbances and ataxia
- Dementia with Lewy bodies: a progressive brain disorder that can cause a range of symptoms, including ataxia, cognitive decline, and visual hallucinations
- Cerebellar ataxia: ataxia that results from damage or dysfunction of the cerebellum
- Sensory ataxia: ataxia that results from a loss of sensory feedback, such as proprioception, due to conditions such as peripheral neuropathy or dorsal column disease.
What causes Friedreich’s Ataxia?
FA is caused by a genetic mutation that affects the production of frataxin, a protein that plays a critical role in the function of mitochondria – the energy-producing structures within cells. The mutation leads to a shortage of frataxin, which causes oxidative stress and damage to nerve cells, leading to their degeneration. FA is inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the mutated gene – one from each parent – to develop the condition. Carriers of the mutation, who have only one copy of the gene, do not develop FA but can pass it on to their children.
How does FA affect the human brain?
Friedreich’s ataxia (FA) is a progressive neurodegenerative disorder that affects the nervous system. It is a genetic condition caused by a mutation in the FXN gene, which leads to a deficiency in the production of frataxin, a protein involved in energy metabolism in the mitochondria. This results in various symptoms, including difficulties with movement, balance, coordination, and speech.
FA primarily affects the cerebellum, a part of the brain responsible for coordinating movement and maintaining balance. The cerebellum contains numerous Purkinje cells responsible for sending signals that control movement to the muscles. In FA, these Purkinje cells degenerate, leading to ataxia (uncoordinated movements) and dysarthria (slurred speech). The spinal cord and peripheral nerves may also be affected, leading to muscle weakness and loss of limb sensation.
The loss of frataxin in the mitochondria also leads to oxidative stress, which can damage cells and cause inflammation. This can further contribute to the degeneration of nerve cells in the cerebellum and other parts of the nervous system, leading to a progressive decline in neurological function over time.
While there is no cure for FA, therapies are available to manage symptoms and improve the quality of life for those living with the condition. These may include physical therapy, speech therapy, and medications to manage symptoms such as tremors and muscle spasms. Ongoing research is focused on developing new treatments to slow or halt the progression of the disease by addressing the underlying genetic and biochemical factors involved.
Are there Signs & Symptoms?
The signs and symptoms of FA can vary widely among affected individuals but typically include ataxia (lack of coordination and balance), muscle weakness and spasticity, sensory loss, vision, and hearing impairment, slurred speech, and heart disease. Other possible features of FA may include scoliosis (curvature of the spine), diabetes mellitus, and bladder dysfunction. Symptoms typically begin in childhood or adolescence and progress over time, leading to disability and loss of independence. FA can affect individuals differently, even within the same family, and the age of onset and rate of progression can also vary.
Diagnosis & Treatment Options
Diagnosis of FA involves a combination of clinical evaluation, genetic testing, and imaging studies. A neurological exam can reveal the characteristic signs of ataxia, while genetic testing can confirm the presence of the FA gene mutation. Imaging studies, such as MRI or CT scans, can show the extent of nerve damage and help rule out other conditions that may mimic FA.
Currently, there is no cure for FA, and treatment options are limited to managing symptoms and complications. This may include physical, occupational, speech, and orthopedic interventions to address scoliosis or other skeletal deformities. Medications may sometimes be used to manage specific symptoms such as tremors, muscle stiffness, or heart problems.
Can medical cannabis help?
Some evidence suggests that medical cannabis may be helpful in managing certain symptoms of FA, such as pain, muscle spasms, and sleep disturbances. However, more research is needed to determine its effectiveness and safety in this context. Cannabis contains compounds called cannabinoids, which interact with the body’s endocannabinoid system and play a role in regulating pain, inflammation, and other physiological processes.
Some studies have shown that cannabinoids may have neuroprotective properties and could potentially slow the progression of FA. However, the use of medical cannabis should always be discussed with a healthcare provider, as there may be risks and side effects associated with its use, particularly in children and adolescents.
Last Updated: March 7, 2023
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