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Coffin-Lowry Syndrome (CLS) is a genetic condition primarily caused by mutations in the RSK2 gene on the X chromosome. It affects both physical and cognitive development and is more common in males, though females can also be affected. Key characteristics include:
Developmental delays
Cognitive impairments
Distinctive facial features
Skeletal abnormalities (e.g., spinal curvature or joint laxity)
Hypotonia (low muscle tone)
Improve muscle tone, balance, and coordination.
Address mobility challenges with structured exercises.
Enhance gross motor skills to support daily activities.
Develop fine motor skills for improved hand-eye coordination.
Facilitate independence in daily living tasks, such as dressing and eating.
Provide sensory integration therapy for individuals with sensory processing difficulties.
Support the development of communication skills, including nonverbal methods like AAC (Alternative and Augmentative Communication).
Address speech clarity and language delays.
Assist with feeding and swallowing difficulties if present.
Design programs to improve cardiovascular health and muscle strength.
Promote overall physical activity to enhance quality of life.
Sensory Room: A calming and interactive space to help individuals with sensory challenges regulate emotions and responses.
Kids Therapy Gym: Equipped with climbing frames, trampolines, and more to encourage active play and motor skill development.
Rehabilitation Gym: Ideal for customized exercises that focus on individual physical needs.
What causes Coffin-Lowry Syndrome?
CLS is caused by mutations in the RSK2 gene, which plays a critical role in cell signaling and development.
Can therapy improve quality of life for individuals with CLS?
Yes, therapies tailored to the individual’s specific needs can greatly improve motor skills, communication, and independence, enhancing overall quality of life.
Is CLS more common in males or females?
CLS is more severe and common in males due to its inheritance pattern on the X chromosome. Females with the mutation may have milder symptoms.
Do you offer NDIS-supported services?
Yes, we are an NDIS provider and can work with families to support funding needs.
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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Genetic Alliance Australia
https://www.geneticalliance.org.au
Raising Children Network
https://raisingchildren.net.au
Carers Australia
https://www.carersaustralia.com.au
NDIS (National Disability Insurance Scheme)
https://www.ndis.gov.au
Syndromes Without a Name (SWAN) Australia
https://swanaus.org.au
Limbs 4 Life – Supporting Amputees in Australia
https://www.limbs4life.org.au
Limbs 4 Life provides support, education, and resources for people with amputations and their families.
Better Health Channel – Amputation and Rehabilitation
https://www.betterhealth.vic.gov.au
An overview of the causes, treatment, and rehabilitation process for individuals undergoing amputation.
NDIS (National Disability Insurance Scheme)
https://www.ndis.gov.au
Access information and funding for therapy services related to amputation recovery.
Australian Physiotherapy Association – Rehabilitation for Amputees
https://www.physiotherapy.asn.au
Learn about physiotherapy treatments available for amputees in Australia.
Amputees & Families Support Group Queensland
https://www.amputeesqueensland.org.au
Support services and peer support groups for amputees in Queensland, with resources for rehabilitation and prosthetic use.
Prosthetics and Orthotics Association of Australia
https://www.poa.org.au
Information on prosthetics, orthotics, and related healthcare services for amputees.
Head to this page to see the different conditions that we can help with, and get you the pain relief and function you deserve!
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