Neuromuscular Disorders
Neuromuscular disorders is a general term that refers to diseases that affect any part of the nerve and muscle. These disorders vary according to characteristics such as pattern of inheritance, origin of the genetic mutation, incidence, symptoms, age of onset, rate of progression, and prognosis. Several examples included in this wide range of disorders are:
- Skeletal muscle disorders, such as muscular dystrophies and inflammatory myopathies
- Neuromuscular junction disorders, such as myasthenia gravis
- Peripheral nerve disorders, such as Charcot-Marie-Tooth disease
- Motor neuron disorders, such as Spinal Muscular Atrophy
- Genetically determined ataxias, such as Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay and Friedreich’s Ataxia
Below you will find specific information on some of the main disorders that fall within each category.
For a comprehensive list of all the neuromuscular disorders that fall under the umbrella of Muscular Dystrophy Canada, please click here.
Skeletal muscle disorders
This category lists muscle disorders that directly affect skeletal muscles. This includes the muscular dystrophies, the structural myopathies, the inflammatory myopathies, myotonic disorders, channelopathies, and metabolic muscle diseases.
- Becker muscular dystrophy
- Congenital muscular dystrophy
- Duchenne muscular dystrophy
- Standards of Care (Interim Recommendations from TREAT-NMD Consortium)
- Consensus Statement on the Respiratory and Related Management of Patients With Duchenne Muscular Dystrophy Undergoing Anesthesia or Sedation (http://www.chestjournal.org/content/132/6/1977.abstract)
- Facioscapulohumeral Dystrophy
- Limb Girdle Muscular Dystrophy
- McArdle’s Disease
- Multicore myopathy
- Myositis Disorders: Polymyositis, Inclusion Body Myositis, and Dermatomyositis
- Myotonia Congenita (Thomsen’s disease, Becker’s Generalized Myotonia), Paramyotonia Congenita, Schwartz Jampel Syndrome
- Myotonic dystrophy (also known as Steinert’s Disease)
- Nemaline myopathy
- Oculopharyngeal muscular dystrophy
- Pompe Disease (also known as Acid Maltase Deficiency; Glycogen Storage Disease Type II)
Neuromuscular junction disorders
Listed under this category are primarily different forms of myasthenia gravis (MG). These are disorders that concern the neuromuscular junction, the space where nerve signal is passed from nerve to muscle.
Peripheral nerve disorders
Disorders related to the peripheral nerve are those that affect the nerve cells that connect the spinal cord to the muscle. These include nerves that run down arms or legs, for example, and include many forms of hereditary motor and sensory neuropathies and other forms of neuropathies.
- Charcot-Marie-Tooth Disease (also known as Hereditary Motor And Sensory Neuropathy; Peroneal Muscular Atrophy)
- Guillain-Barré syndrome
- Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Anterior horn cell disorders
The anterior horn cell is found inside the spinal column, and as part of the central nervous system connected to the brain, is responsible for generating nerve signals that move muscle. Spinal muscular atrophy is the most common form.
- Consensus Statement for Standard of Care in Spinal Muscular Atrophy, Journal of Child Neurology, August 2007
- A Family Guide to the Consensus Statement
Genetically determined ataxias
The ataxias are generally caused by genetic mutations affecting the nerve cells of the spinal cord or the brain.

