Neuromuscular disorders
What are neuromuscular disorders?
Neuromuscular disorders are a group of conditions that affect the nerves, the muscles, and the way they communicate with each other. 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 hereditary, such as muscular dystrophies, while others are usually acquired, such as motor neuron disease or myasthenia gravis. They may affect only specific muscles or have a more generalized presentation.
At Affidea neuraCare, we understand how profoundly these conditions can affect one’s life. This is why you will receive personalized care from a team of leading specialists dedicated to the diagnosis, treatment and management of neuromuscular disorders. Supported by deep clinical expertise and the latest innovations, we work to provide you with the full power of modern medicine so you can feel better.
Continue reading to learn about the different types of neuromuscular disorders, common symptoms and the specialized evaluations and treatment options available at Affidea neuraCare.
Types of neuromuscular disorders
Neuromuscular disorders include a range of conditions with different causes, symptoms and treatments. To facilitate diagnosis and therapy, they are classified into categories depending on whether they affect the nerves, the muscles or the connection between them.
Some of the conditions we diagnose and treat include:
- Muscular dystrophies – a group of genetic conditions that cause progressive muscle weakness and atrophy, such as Duchenne and Becker muscular dystrophy, myotonic dystrophies, facioscapulohumeral muscular dystrophy and other rare forms.
- Neuropathies – hereditary or acquired conditions that affect the peripheral nerves, leading to pain, sensory disturbances and muscle weakness, such as Charcot-Marie-Tooth disease, Guillain-Barré syndrome, diabetic neuropathy and others.
- Motor neurone diseases – progressive conditions that damage the nerve cells, leading to gradual loss of muscle function, such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).
- Myasthenia gravis – an autoimmune disorder of neuromuscular transmission, often presenting with symptoms such as ptosis, double vision, difficulty swallowing, difficulty breathing and weakness of respiratory muscles and limb muscles that worsens with activity.
- Lambert-Eaton syndrome – a rare autoimmune disorder of neuromuscular transmission characterized by progressive muscle weakness, especially in the lower limbs, as well as symptoms suggestive of autonomic nervous system involvement, such as dry mouth and decreased sweating.
- Channelopathies – hereditary disorders that affect ion channel function and manifest as episodes of paralysis or myotonia (delayed relaxation of a muscle after contraction). Examples include periodic paralyses and congenital myotonias.
- Myopathies – hereditary or acquired diseases of the muscle fibers, such as congenital myopathies, causing muscle weakness, exercise intolerance, gait disturbance and more.
- Inflammatory myopathies – autoimmune conditions that cause muscle weakness, such as dermatomyositis, polymyositis, necrotizing autoimmune myopathy and inclusion body myositis.
- Mitochondrial disorders – conditions that affect the cells’ ability to produce energy (mitochondria), with a variety of symptoms including muscle weakness, ptosis, ophthalmoplegia and multisystem manifestations.
Accurate diagnosis is essential for effective and long-term management of neuromuscular disorders. Many conditions share similar symptoms but require different treatments, which is why evaluation by a specialist is crucial.
Worried about your symptoms?
Common symptoms
Neuromuscular disorders cause a variety of symptoms depending on which part of the nervous system or muscles is affected. Recognizing early signs is an important step in receiving appropriate support.
The information below refers to adults. Neuromuscular disorders in children may present differently. You can explore common neuromuscular symptoms in children along with specialized pediatric assessment and care.
Some common symptoms include:
Muscle weakness
Muscle weakness is one of the main symptoms of many neuromuscular disorders. It often begins in the lower limbs and later affects the pelvic muscles and upper limbs. Depending on the severity of symptoms, patients may experience a decline in their functional ability in everyday activities. Other associated symptoms may include difficulty swallowing and respiratory insufficiency.
Muscle atrophy
Muscle atrophy is the gradual loss of muscle mass and is usually a sign of chronic disease.
Nerve damage
Nerve damage causes sensory disturbances such as tingling, numbness, burning sensations or sharp, shooting pain. Depending on the condition, symptoms may involve the upper or lower limbs, symmetrically or asymmetrically.
Feeling of “muscle stiffness”
A sensation of “tightness” may occur, with difficulty relaxing a muscle after contraction, as seen in conditions such as myotonia, congenital myotonias and myotonic dystrophies.
Difficulty with movement
Many conditions affect balance, coordination or fine motor skills. You may feel less steady, fall more often, feel unsteady or have difficulty with activities requiring precision, such as buttoning clothes or using cutlery.
If you or someone you care for is experiencing these symptoms, it is important to see a neurologist. Early evaluation by a specialist can assist in diagnosis and ensure that appropriate support and treatment begin as soon as possible.
Diagnosis of neuromuscular disorders
Contacting a neurologist is the first crucial step to understand what is happening and to find the appropriate support. Since many conditions share similar symptoms and affect people differently, diagnosis requires a careful and detailed process.
Our neurologists use the latest tools, techniques and technologies to form a clear picture of your health.
Depending on your symptoms and condition, the evaluation may include:
- Detailed medical history to discuss your symptoms, how they have progressed and your personal and family medical background
- Clinical examination to assess muscle strength, tone, reflexes, coordination and balance
- Neurodiagnostic tests such as electromyography and nerve conduction studies
- Imaging tests such as ultrasound or MRI
- Specialized genetic tests and counseling
- Other laboratory tests, including blood tests, cerebrospinal fluid analysis or muscle/nerve biopsy
We understand that uncertainty around a diagnosis can be stressful. This is why we use the most advanced techniques to ensure early and accurate evaluation.
Treating neuromuscular conditions
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.
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