From the Guidelines
Neuromuscular diseases encompass a broad spectrum of diagnoses, including muscular dystrophies, motor neuron diseases, peripheral neuropathies, neuromuscular junction disorders, inflammatory myopathies, metabolic myopathies, and congenital myopathies. These conditions can be categorized based on their underlying pathophysiology and clinical manifestations.
- Muscular dystrophies, such as Duchenne muscular dystrophy (DMD), are characterized by progressive muscle weakness due to genetic defects in muscle proteins 1.
- Motor neuron diseases, including amyotrophic lateral sclerosis (ALS), affect nerve cells controlling voluntary muscles.
- Peripheral neuropathies, like Charcot-Marie-Tooth disease, damage nerves outside the brain and spinal cord.
- Neuromuscular junction disorders, such as myasthenia gravis, disrupt communication between nerves and muscles.
- Inflammatory myopathies, including polymyositis, are characterized by muscle inflammation.
- Metabolic myopathies interfere with energy production in muscle cells.
- Congenital myopathies are present from birth and can have varying degrees of severity. The management of these conditions requires a comprehensive approach, including medications to manage symptoms, physical therapy to maintain function, assistive devices, and in some cases, targeted therapies addressing the underlying cause, as highlighted in the American Heart Association's statement on the management of cardiac involvement associated with neuromuscular diseases 1.
From the Research
Types of Neuromuscular Diseases
- Neuromuscular diseases can be classified based on the site of injury, which can be in the cell bodies, axons, Schwann cells, neuromuscular junction, or muscle 2.
- Some common types of neuromuscular diseases include:
- Amyotrophic lateral sclerosis (ALS)
- Sensory ganglionopathies
- Axonal peripheral neuropathies
- Brachial plexopathies
- Chronic inflammatory demyelinating polyradiculoneuropathy
- Myasthenia gravis
- Lambert-Eaton myasthenic syndrome
- Inflammatory myopathy
- Muscular dystrophy
- Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are two prevalent types of neuromuscular diseases, caused by mutations in the dystrophin gene 3, 4, 5, 6.
- Spinal muscular atrophy (SMA) is another type of neuromuscular disease, defined by the degeneration of the anterior horn cells in the spinal cord and destruction of motor neuron nuclei in the lower brain-stem, caused by SMN1 gene deletion 3.