Neuromuscular and Genetic Syndromes

Neuromuscular & Genetic Syndromes

Some neuromuscular conditions we see include

Duchenne Muscular Dystrophy (DMD) is the most common childhood muscular dystrophy and is characterized by loss of muscle strength and bulk
Charcot-Marie-Tooth (CMT) Disease is a group term for inherited or genetic disorders that affect the peripheral nervous system. Clinical signs vary widely but may lead to lower limb deformities and foot drop
Fascioscapulohumeral dystrophy (FSHD) can begin from early infancy to adulthood. It is characterized by progressive muscle weakness and loss of function. Weakness is mostly picked up in the upper arm, back shoulders and face, with some also experiencing weakness in the trunk and lower limbs
Down Syndrome and other genetic syndromes

Common challenges:

Difficulty manipulating objects
Delay in meeting motor milestones (e.g. rolling, sitting, crawling, standing, walking)
Low postural tone and floppiness
Difficulty with head and neck control
Difficulty breathing and speech production

The role of a paediatric neurological physiotherapist in neuromuscular conditions:

Evidence shows that you can successfully treat or manage many of the symptoms of neuromuscular conditions with a tailored neurological rehabilitation program designed by paediatric neurological physiotherapists. Paediatric neurological physiotherapists are physiotherapists with additional training and expertise in treating problems related to the brain, spinal cord, inner ear and nerves that affect childhood development. It is important to note that these conditions are chronic and can leave a wide ranging impact on the child or adult as they get older. As there is no current cure for these conditions, improving quality of life and support for physical functioning is important and often benefits from a multi-disciplinary team approach. We can assist you in seeking other health professional expertise to complement your existing network or direct you to be assessed further in a timely way.

What our skilled therapists can offer:

Understand your child’s medical history
Provide additional information to assist with a diagnosis or prognosis
Take a family-centered approach that is goal-focused
Undertake a thorough assessment of their developmental skills
Design a personalised neurological rehabilitation program that is holistic and considers the 24-hour routine.
Provide advice on facilitating skill development and transfer into your child’s daily life, and education on how to best support your child’s health
Liaise with your child's network (e.g. kindergarten, school, other therapists) as appropriate

Frequently Asked Questions

What are neuromuscular and genetic syndromes?

Neuromuscular and genetic syndromes encompass a diverse group of disorders that affect the muscles and their direct nervous system control. These conditions can result from genetic mutations and manifest through muscle weakness, loss of muscle mass, and impaired movement.

How are neuromuscular and genetic syndromes diagnosed?

These syndromes are typically diagnosed through genetic testing, muscle function assessments, and neurological evaluations. Detailed family history and sometimes muscle biopsies are essential components of diagnosing these disorders.

At what age can neuromuscular and genetic syndromes be diagnosed?

Symptoms of many neuromuscular disorders can be detected at birth or in early childhood. However, some conditions may not manifest until adolescence or adulthood. Early diagnosis through genetic screening can often predict the likelihood of developing these syndromes.

What are the early signs of neuromuscular and genetic syndromes?

Early signs for this condition could include anything from muscle weakness and fatigue to difficulties with coordination, and developmental milestones delays in children. Each syndrome has specific characteristics, which can vary widely between individuals.

Can adults be diagnosed with neuromuscular and genetic syndromes?

Yes, while many of these syndromes are identified in childhood, some are not detected until adulthood, especially in cases of mild symptoms or late-onset forms of the disease.

Is there a cure for neuromuscular and genetic syndromes?

Currently, there is no cure for most neuromuscular and genetic syndromes, but treatments such as physical therapy, medications, and surgical interventions can manage symptoms and improve quality of life.

What causes neuromuscular and genetic syndromes?

These syndromes are primarily caused by genetic mutations that affect muscle function, either through direct muscle pathology or through the nerves that control muscles. Environmental factors may influence the severity of the symptoms but are not primary causes.

How can families support a member with neuromuscular and genetic syndromes?

Support for a family member with these conditions includes educating oneself about the disorder, participating in support networks, and collaborating with healthcare providers to tailor a management plan that suits the individual’s needs.

Do neuromuscular syndromes impact the brain?

Neuromuscular and genetic syndromes primarily affect the peripheral nervous system, which includes all the motor and sensory nerves connecting the brain and spinal cord to the entire body. The main symptom of these disorders is progressive muscle weakness, although the brain itself is not directly affected by these conditions.

How does mitochondrial dysfunction relate to neuromuscular and genetic syndromes?

Mitochondrial dysfunction is a common component in many neuromuscular and genetic syndromes, contributing to symptoms like muscle weakness and fatigue. Addressing mitochondrial health is a key aspect of managing these conditions, often involving specialized treatments and dietary adjustments.