Facioscapulohumeral Muscular Dystrophy in Sheikh Shakhbout Medical City
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness and atrophy, primarily affecting the facial, shoulder, and upper arm muscles. This condition can have significant implications for pediatric patients, particularly those treated in specialized departments such as the Pediatric Neonatology department at Sheikh Shakhbout Medical City (SSMC).
Overview of FSHD
What is FSHD?
FSHD is one of the most common forms of muscular dystrophy. It typically manifests in late childhood or early adulthood, but it can also present in infants and young children. The condition is caused by genetic mutations that lead to the loss of muscle tissue over time. Symptoms may include:
- Weakness in facial muscles
- Difficulty lifting the arms
- Scapular winging
- Progressive muscle weakness
Genetic Basis
FSHD is primarily linked to deletions on chromosome 4, specifically affecting the DUX4 gene. This gene plays a crucial role in muscle development and function. Understanding the genetic underpinnings of FSHD is essential for diagnosis and management.
Clinical Presentation in Neonates
Symptoms in Newborns
In neonates, the symptoms of FSHD may not be immediately apparent. However, early signs can include:
- Hypotonia (decreased muscle tone)
- Delayed motor milestones
- Weakness in facial expressions
Diagnosis
Diagnosis typically involves a combination of clinical evaluation, family history assessment, and genetic testing. Early detection is vital for effective management and intervention.
Management Strategies at Sheikh Shakhbout Medical City
Multidisciplinary Approach
At SSMC, a multidisciplinary team approach is employed to manage FSHD in pediatric patients. This team may include:
- Pediatric neurologists
- Geneticists
- Physical therapists
- Occupational therapists
Goals of Management:
- Enhance mobility and strength
- Provide supportive care
- Monitor respiratory function
Therapeutic Interventions
Therapeutic interventions may include:
- Physical Therapy: To improve strength and mobility.
- Occupational Therapy: To assist with daily activities.
- Genetic Counseling: To provide information to families about inheritance patterns and future risks.
Facioscapulohumeral muscular dystrophy presents unique challenges in pediatric neonatology, particularly within specialized care settings like Sheikh Shakhbout Medical City. Early diagnosis and a comprehensive management plan are crucial for improving outcomes for affected children. The collaborative efforts of healthcare professionals ensure that these young patients receive the best possible care tailored to their specific needs.
Why choose SSMC?
Assisted by advanced medical technology and modern facilities, our consultant-led team of world-class paediatricians and specialists in paediatric neurology delivers high-quality healthcare services.
The department of Paediatric Neurology is renowned for its use of Vagus Nerve Stimulators for treating intractable epilepsy, Enzyme Replacement Therapy for neurometabolic disorders, and using Intrathecal Drug Injection for dealing with spinal muscular atrophy.
Through our veteran doctors, SSMC is dedicated to the physical, mental and social wellbeing of our patients.
