Cohen Syndrome and How Physiotherapy Can Help

Cohen Syndrome is a rare genetic disorder characterized by a wide range of symptoms, including developmental delays, motor skill challenges, low muscle tone, and vision problems. First described in 1973, the syndrome is caused by mutations in the VPS13B gene and can vary widely in its severity and symptoms. Individuals living with Cohen Syndrome often experience difficulties that impact their quality of life, but with the right therapeutic approaches, these challenges can be effectively managed.

Understanding Cohen Syndrome

People with Cohen Syndrome often exhibit the following symptoms:

• Developmental Delays: Children may reach developmental milestones such as sitting, walking, and talking later than their peers.
• Muscle Hypotonia: Low muscle tone is a common feature, leading to motor skill difficulties and generalised muscle weakness.
• Vision Impairments: Progressive vision loss, particularly due to retinal degeneration, is often seen.
• Joint Laxity: Looseness of the joints can make movement more difficult and increase the risk of injury.
• Distinctive Facial Features: Individuals may have certain facial characteristics, such as a high-arched palate or thick hair and eyebrows.

Despite the challenges, individuals with Cohen Syndrome can benefit significantly from a multidisciplinary approach that includes medical care, genetic counselling, and therapeutic interventions like physiotherapy.

How Physiotherapy Can Help Individuals with Cohen Syndrome

Physiotherapy plays an important role in managing the physical challenges associated with Cohen Syndrome. Tailored to the unique needs of everyone, physiotherapy can help improve mobility, strengthen muscles, and enhance overall motor function. Here’s how physiotherapy can assist:

1. Improving Muscle Tone and Strength

Individuals with Cohen Syndrome often experience muscle hypotonia (low muscle tone), which can cause muscle weakness and poor coordination. Physiotherapy exercises that focus on strengthening specific muscle groups can improve muscle tone and provide greater control over movements. Strength training programs are designed to be gradual and safe, ensuring progress without over-exertion.

2. Enhancing Mobility and Flexibility

Given the joint laxity and muscle weakness associated with Cohen Syndrome, mobility exercises are critical. Physiotherapists will create personalised exercise routines that work on improving joint stability and range of motion. These exercises might include stretches and dynamic movements that help increase flexibility and reduce the risk of injury.

3. Motor Skill Development

Children with Cohen Syndrome often face delays in motor development. Physiotherapy interventions can support the development of gross motor skills such as walking, running, and balancing, as well as fine motor skills like gripping and hand coordination. Therapists may use fun, engaging activities designed to help children build these skills in a supportive and encouraging environment.

4. Posture and Gait Training

People with Cohen Syndrome may experience issues with posture and walking due to muscle imbalances. Physiotherapists can help improve posture and gait through targeted exercises and gait training. This may involve correcting walking patterns, enhancing core strength, and providing orthotics if needed to aid stability.

5. Balance and Coordination

Balance is often affected in individuals with Cohen Syndrome due to low muscle tone and joint laxity. Physiotherapy programs can help by incorporating balance exercises that improve overall coordination and prevent falls. These exercises might include standing on one foot, walking on balance beams, or using balance boards.

6. Support for Vision Impairments

Physiotherapists can work alongside ophthalmologists to address the motor challenges that arise due to vision loss. Vision impairment can impact spatial awareness and balance, and physiotherapy can help develop compensatory strategies to manage these difficulties, ensuring greater independence in day-to-day activities.

Conclusion

Physiotherapy is a vital component in managing Cohen Syndrome, helping individuals build strength, improve mobility, and develop essential motor skills. At Health Next Door, our physiotherapists are trained to provide compassionate, expert care tailored to everyone’s needs. We believe in a holistic approach that empowers individuals with Cohen Syndrome to reach their full potential and lead more independent lives.

If you or someone you know is living with Cohen Syndrome and would like to explore how physiotherapy can help, please contact Health Next Door for a FREE 15 Minute Phone Consultation! We’re here for you!