More than 15,000 people could suffer from hereditary ataxia in Spain and about 40% of cases due to acquired causes, which would imply that more than 25,000 people may suffer from this disorder, as reported by the Spanish Society of Neurology (SEN) on the occasion of the celebration of International Ataxia Day this Friday, September 25.
Ataxia is not a disease as such, but “a characteristic symptom of more than 300 degenerative processes that also have other symptoms such as skeletal deformities, heart disease, diplopia, dysarthria, diabetes, sensory impairment or lymphomas “, they explain from the Federation of Ataxias of Spain (FEDAES).
One of the main manifestations of this disorder consists of the decreased ability to coordinate body movements as well as the difficulty in maintaining balance and lack of muscle control.
Warning signs of this disorder
Ataxia encompasses a group of neurological diseases that are progressive, in most cases, and that they can start with a slight lack of balance while walking and “end up being highly disabling.” This progression is different depending on the type of ataxia and depends on other factors such as “genetic, environmental and personal”. In this sense, they can be classified into two large groups: hereditary (about 60%) and acquired (40% of cases).
They all have a common red flag: the alteration in the coordination of movements due to a dysfunction of the cerebellum. Symptoms can appear suddenly or gradually and, depending on Mayo Clinic, the most frequent are the following:
- Poor coordination and instability, even causing frequent trips.
- Difficulty in motor tasks such as writing, eating, or buttoning a shirt.
- Changes in speech
- Involuntary eye movements.
- Difficulty to swallow.
What characterizes hereditary ataxias? How many types are there?
Most ataxias are genetic in origin and can appear at any stage of life, although one of the most common is Friedreich’s ataxia, which usually manifests before the age of 25. In this way, ataxia can be inherited from a dominant gene from one of the parents, which is known as an autosomal dominant disorder, or from a recessive gene from both, that is, an autosomal recessive disorder.
Regarding those of autosomal dominant transmission, one of the best known is the spinocerebellar ataxia, of which 48 different types have been described, and whose signs vary depending on the specific mutation of the gene and the age of appearance. It is the most common among people who manifest this disorder in adulthood.
On the other hand, episodic ataxia it also develops from the inheritance of a gene mutation from a single parent, and in some cases “symptoms resolve over time.” During these episodes dizziness, fatigue and muscle weakness can occur, although “episodic ataxia does not shorten life expectancy,” they indicate from FEDAES.
Regarding the ataxias produced by autosomal recessive transmission, Friedreich’s is the most common in childhood and includes damage to the cerebellum, spinal cord, and peripheral nerves. “The first sign is the difficulty to walk and normally it advances towards the arms and the trunk “, they clarify. As it is progressive, the muscles weaken leading to deformations. Other symptoms include slow speech, involuntary eye movements, scoliosis, hearing loss, and heart disease.
Acquired ataxia: what are the most common causes?
Unlike hereditary ones, acquired ataxias tend to appear suddenly and develop rapidly. In these cases, the most frequent causes can be:
- Congenital abnormality due to an unusual formation of the cerebellum formed in an unusual way.
- Metabolic: produced by poor absorption of nutrients from food, vitamin deficiencies or endocrine diseases.
- Trauma: a blow to the head can cause functional injury to the cerebellum or other structures responsible for movement.
- Infections: due to drug, medication or alcohol use.
- Autoimmune diseases.
- Other reasons, such as after suffering a brain hemorrhage or cardiac arrest.
What are the possible treatments?
Today there is no specific treatment for ataxia by comprising a group of neurological disorders that vary depending on the type, progression and symptoms. In such a way that health professionals can advise treatment “to control symptoms, such as depression, stiffness, tremors, fatigue or dizziness, or suggest adaptive devices or therapies to help with ataxia,” they indicate at Mayo Clinic.
There is a higher probability that ataxia caused by conditions such as multiple sclerosis or infantile cerebral palsy is not treated. “In that case, your doctor may recommend adaptive devices.” Some of the therapies that stand out from FEDAES include physical therapy, occupational therapy or speech techniques.