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Sandhoff Disease is a rare genetic disorder caused by the deficiency of enzymes (hexosaminidase A and B), leading to the accumulation of GM2 ganglioside, a fatty substance in the nerve cells. This accumulation causes progressive damage to the brain and nervous system.
Symptoms of Sandhoff Disease include:
Developmental Delays: Slower achievement or loss of milestones such as sitting and walking.
Muscle Weakness: Progressive weakness, impacting mobility and posture.
Seizures: Frequent and challenging to manage in severe cases.
Vision and Hearing Loss: Degeneration of sensory capabilities.
Difficulty Swallowing: Dysphagia, leading to feeding challenges.
Sandhoff Disease typically presents in infancy or early childhood, with more severe cases progressing rapidly. While there is no cure, therapeutic interventions can significantly improve quality of life and provide meaningful support.
Physiotherapy
Strength and Flexibility: Gentle exercises to maintain joint mobility and reduce muscle stiffness.
Postural Support: Therapy to improve alignment and reduce discomfort.
Respiratory Techniques: Exercises to assist with breathing challenges.
Occupational Therapy
Daily Activity Adaptations: Tools and strategies to support independence in basic activities.
Environmental Modifications: Recommendations to create safe and accessible spaces.
Assistive Technology: Identification and training in the use of supportive devices.
Speech Therapy
Swallowing Therapy: Support for feeding difficulties, including alternative feeding techniques.
Communication Support: Augmentative and alternative communication (AAC) strategies for non-verbal individuals.
Exercise Physiology
Customized Movement Programs: Gentle, low-impact activities tailored to each individual's abilities.
Endurance Building: Structured sessions to improve energy levels and stamina.
Parental Training: Guidance for families to support at-home exercises safely.
Specialized Facilities
Rehabilitation Gym: Designed to accommodate patients of all abilities for structured therapy.
Sensory Room: A calming space to support relaxation and sensory engagement.
Kids Therapy Gym: Fun and interactive equipment for pediatric therapy.
What is Sandhoff Disease?
Sandhoff Disease is a rare genetic condition characterized by progressive damage to the nervous system caused by the buildup of GM2 ganglioside due to enzyme deficiencies.
How can therapy help individuals with Sandhoff Disease?
Therapies at Palms Physiotherapy & Allied Health focus on managing symptoms, enhancing mobility, and improving communication to support a better quality of life for individuals with Sandhoff Disease.
Do you provide pediatric therapy for children with Sandhoff Disease?
Yes, we offer specialized therapies tailored to children, utilizing our kids therapy gym and dedicated team of pediatric specialists.
Can your clinic assist with NDIS funding for Sandhoff Disease management?
Yes, as an NDIS provider, we align our therapies with individual care plans to ensure comprehensive support.
What role does speech therapy play in managing Sandhoff Disease?
Speech therapy focuses on improving feeding and swallowing difficulties, as well as exploring alternative communication methods for non-verbal individuals.
Take the first step towards expert care for Sandhoff Disease. At Palms Physiotherapy & Allied Health, we’re dedicated to supporting individuals and families through tailored therapy programs. Visit us at www.palmsphysiotherapy.com.au or call to book an appointment today. Together, we can enhance quality of life through compassionate and innovative care.
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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Rare Voices Australia
https://www.rarevoices.org.au
Genetic Support Network of Victoria
https://www.gsnv.org.au
Healthdirect Australia
https://www.healthdirect.gov.au
Better Health Channel
https://www.betterhealth.vic.gov.au
Childhood Dementia Initiative
https://childhooddementia.org
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