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At Palms Physiotherapy & Allied Health, we offer specialized care for individuals with Tay-Sachs Disease. Our team of physiotherapists, occupational therapists, speech therapists, and exercise physiologists work together to provide holistic treatment that focuses on improving quality of life, managing symptoms, and supporting the unique needs of individuals living with Tay-Sachs.
Tay-Sachs Disease is a rare genetic disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency in the enzyme hexosaminidase A (Hex-A), which is responsible for breaking down fatty substances in the body. Without Hex-A, these fatty substances build up to toxic levels, damaging the central nervous system and leading to severe neurological problems.
Tay-Sachs most commonly appears in infants, but there are also juvenile and adult-onset forms of the disease.
The symptoms of Tay-Sachs Disease vary depending on the age of onset but can include:
Infantile Onset:
Muscle weakness (hypotonia)
Loss of motor skills (e.g., crawling, sitting)
Exaggerated startle response
Seizures
Progressive loss of vision and hearing
Paralysis
Juvenile and Adult Onset:
Muscle weakness
Loss of coordination
Difficulty speaking and swallowing
Movement disorders (ataxia)
Mental health challenges (in adult-onset cases)
Range of Motion Exercises: To reduce muscle stiffness and improve flexibility.
Gentle Strengthening Exercises: For preserving muscle strength as long as possible.
Respiratory Therapy: Techniques to support lung function, particularly as breathing may become difficult in advanced cases.
Postural Management: Ensuring optimal positioning to avoid contractures and pressure sores, improving overall comfort.
Our occupational therapists support individuals with Tay-Sachs Disease in maintaining independence and quality of life. Occupational therapy provides:
Daily Living Skills: Training to help individuals perform tasks like dressing, eating, and grooming for as long as possible.
Assistive Devices: Recommendations for adaptive equipment such as wheelchairs, feeding aids, and other devices that facilitate daily activities.
Home Modifications: Suggestions for changes at home to make the environment safer and more accessible as mobility decreases.
Sensory Integration: Therapy to help manage sensory issues and promote relaxation.
Speech and Language Development: For younger children with early signs of communication challenges, therapy aims to support speech and cognitive development.
Swallowing Therapy (Dysphagia Management): Teaching techniques to safely eat and drink, and recommendations for modified diets to prevent choking and aspiration.
Non-Verbal Communication Support: For those who lose the ability to speak, we offer alternative communication methods, such as picture boards, communication devices, or gestures.
Low-Impact Aerobic Exercises: Light activities like aquatic therapy, where the buoyancy of water supports movement.
Muscle Strengthening: Targeting key muscle groups to delay the progression of muscle weakness.
Breathing Exercises: Focused on maintaining respiratory health and lung capacity, particularly for those with difficulty breathing.
At Palms Physiotherapy & Allied Health, our experienced team is here to help children and adults manage their condition and improve their quality of life.
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Tay-Sachs Disease Australia
https://www.tay-sachs.org.au
Offers information, support, and advocacy for individuals and families affected by Tay-Sachs Disease in Australia.
Better Health Channel - Tay-Sachs Disease
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tay-sachs-disease
Provides detailed information on symptoms, diagnosis, and management of Tay-Sachs Disease.
Genetic Alliance Australia - Tay-Sachs
https://www.geneticalliance.org.au
A resource for families dealing with genetic disorders like Tay-Sachs.
Rare Voices Australia - Tay-Sachs Disease
https://www.rarevoices.org.au
Advocacy group supporting Australians living with rare conditions, including Tay-Sachs Disease.
Genetic Disorders UK - Tay-Sachs Disease
https://www.geneticdisordersuk.org
Provides comprehensive information on Tay-Sachs Disease and other genetic disorders.
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