Neuromuscular disorders
Neuromuscular disorders are a group of conditions that affect the nerves, the muscles, and how they communicate. These disorders can suddenly or gradually impact movement, sensation, strength, coordination, and bodily functions, such as breathing and swallowing.
There are many different types of neuromuscular disorders. Some are inherited, such as muscular dystrophy, while others may develop later in life, such as motor neurone disease or myasthenia gravis. They may affect only specific muscles or have a more generalized effect.
At Affidea neuraCare, we understand how life-changing these conditions can be. That’s why you’ll receive personalized care from a world-class team who specialize in diagnosing, treating, and managing neuromuscular conditions. Backed by deep expertise and the latest innovations, we work to bring you the full potential of modern medicine to help you feel more like you.
Read on to learn about the different types of neuromuscular disorders, common symptoms, and the specialist assessments and treatment options at Affidea neuraCare.
Neuromuscular disorders include a range of conditions with their own causes, symptoms, and treatments. To help guide diagnosis and treatment, they’re grouped into categories depending on whether they affect the nerves, the muscles, or the connection between them.
Some of the conditions we diagnose and treat are:
- Muscular dystrophies – a group of genetic conditions that cause progressive muscle weakness and shrinking, such as Duchenne muscular dystrophy and Becker muscular dystrophy. These conditions are most commonly seen in men because they only have one copy of the dystrophin gene, which is important for muscle function.
- Neuropathies – conditions that damage the nerves outside of the brain and spinal cord. These lead to pain, unusual sensations, and muscle weakness, such as Charcot-Marie-Tooth disease, Guillain-Barré syndrome and peripheral neuropathy.
- Motor neurone diseases – progressive conditions that damage nerve cells. These conditions lead to a gradual loss of muscle function and include amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).
- Myasthenia gravis – an chronic autoimmune condition that disrupts communication between nerves and muscles, particularly in the eyes, face, neck and limbs. This can symptoms affecting vision, breathing, and swallowing problems, which often worsen with activity and improve with rest.
- Lambert-Eaton myasthenic syndrome – a rare neuromuscular junction condition that causes progressive muscle weakness in the face, neck, legs and arms. This leads to muscle aches, persistent fatigue, difficulty moving, and eyesight and swallowing problems.
- Skeletal muscle channelopathies – inherited disorders where problems with ion channel function in nerve and muscle cells cause weakness, low muscle tone, and episodes of paralysis. These conditions include myotonia congenita and periodic paralysis.
- Myopathies – disorders that affect muscle fibres, such as congenital myopathy. These cause weakness in specific muscles or many muscles, which can impact movement, breathing, or swallowing.
- Myositis – a group of inflammatory muscle disorders that cause muscle swelling, pain, and weakness, such as dermatomyositis.
- Mitochondrial disorders – conditions affecting the cell’s ability to produce energy (mitochondria) with a wide range of symptoms related to muscle weakness, balance, and movement, such as mitochondrial myopathies and Friedreich’s ataxia.
An accurate diagnosis is critical to effective treatment and long-term management of neuromuscular conditions. Many share similar symptoms but need different types of care and support, which is why an assessment by a specialist can make a difference.
Neuromuscular conditions cause a diverse set of symptoms, depending on which part of the nervous system or muscles is affected. Recognizing the early signs is an important step towards getting you the help and support you need.
The following information is about adults. Neuromuscular conditions may look slightly different in children. Discover common neuromuscular symptoms in children, along with exceptional pediatric assessments and care.
Here are some common symptoms seen in neuromuscular conditions:
Muscle weakness
Muscle weakness is one of the main symptoms of many neuromuscular disorders, particularly in muscular dystrophies. For many conditions, it begins in the legs, pelvis, or arms, which can vary in severity and how it progresses. The affected areas may twitch, cramp, stiffen or ache, which can make everyday tasks and movement more challenging.
In some conditions, progressive muscle weakness can affect posture, breathing, swallowing, and organ function. It may also lead to partial or full paralysis of the affected areas.
Muscle atrophy
Muscle atrophy is the gradual loss of muscle mass. This gradually leads to low muscle tone and muscle weakness in the affected areas. In some conditions, this can cause swallowing, breathing, or heart problems.
Nerve damage
Nerve damage often causes unusual or painful sensations, such as tingling, numbness, a burning or shooting feeling, or pins and needles. It usually starts in the hands or feet, but can affect the whole body. In some conditions, this can impact muscle control or coordination.
Muscle stiffness
This is where the muscles feel tight or rigid, or become difficult to relax. This can cause discomfort or pain, limit flexibility, and make movement less smooth. It’s mostly seen in channelopathies, such as myotonia congenita or periodic paralysis.
Difficulty with movement
Many conditions also affect balance, coordination, or fine motor skills. You may notice becoming clumsier, falling over more often, feeling unsteady on your feet, or having trouble with tasks that need precise movements, such as buttoning a shirt or using cutlery.
If you or someone you love is experiencing any of these symptoms, it’s important to see a neurologist. An early assessment by a specialist can help identify whether a neuromuscular condition is present and make sure the right support and treatment is started as soon as possible.
Speaking to a neurologist is a vital first step in understanding what’s happening and finding the right support. Because several conditions share symptoms and affect people in different ways, diagnosis is a careful and detailed process.
Our specialist neurologists use a range of the latest tools, techniques and technologies to help create a clear picture of your health and bring clarity to your situation.
Depending on your symptoms and condition you may have:
- A comprehensive consultation with your neurologist to discuss your symptoms and how they’ve changed with time, and your medical and family history
- A physical exam to assess your physical ability, such as muscle strength and tone, reflexes, sensation, coordination and balance
- Neurodiagnostic tests, such as an electromyography scan and nerve conduction study, to assess muscle activity and nerve function
- Imaging scans to look for signs of damage or structural changes in the nervous system and muscles, such as ultrasound scans and MRI scans
- Specialist genetic testing and counselling to look for genes linked to certain conditions, including expert support and guidance through the process
- Pathology tests, including blood tests, lumbar punctures, or muscle and nerve biopsies, to assess your muscle and nerve health and rule out metabolic, genetic, or autoimmune causes
We understand that facing uncertainty about a diagnosis can be worrying. That’s why we use the latest tools, techniques and technologies to make early, accurate assessments. An early diagnosis can open the door to life-changing care.
Although many neuromuscular conditions are long-term, the right combination of treatments and supportive therapies can help you adapt to changes, discover new strengths, and live well for as long as possible.
Treatment plans for neuromuscular conditions are not one-size-fits-all. Your multidisciplinary team of specialists works closely with you to make sure your treatment is always shaped around you and your changing needs and goals.
Depending on the condition, treatment options include:
- Medicines – to help relieve symptoms, support muscle strength or nerve function, and slow the progression of certain conditions
- Physiotherapy and rehabilitation – involve tailored exercise programs and mobility aids, such as ankle supports or walkers, to improve comfort, muscle strength, balance, and range of motion to help you feel more confident and safe in your daily life
- Occupational therapy – provides practical strategies and assistive technology to help you adjust routines, surroundings, and tasks in ways that work for you
- Neuropsychology – helps you learn to cope with the emotional and psychological challenges that come with living with a neuromuscular condition
- Supportive therapies – include ongoing emotional and practical support for you and your family, such as peer support groups, counselling, and dietary guidance
Living with a neuromuscular condition can be challenging at times. You don’t have to face this journey alone. We’re here for you every step of the way with exceptional care that is understanding, supportive, and centered around you.
