Neuromuscular Disorders

Original Editor - Rachael Lowe Top Contributors - Evelin Milev


What is a neuromuscular disorder?

Neuromuscular disorders is a general term that encompasses a large number of diseases with different presentations, The terms 'muscle disease', ‘muscular dystrophy', ‘neuromuscular conditions' and ‘neuromuscular disorders' all describe a large group of conditions which affect either the muscles, such as those in the arms and legs or heart and lungs, or the nerves which control the muscles[1].

There are lots of different types of muscle disease. Different conditions affect different muscles. The severity of conditions and how they affect individuals varies greatly from person to person. Most conditions are progressive, causing the muscles to gradually weaken over time. People's mobility is affected and most conditions lead to some sort of disability.

Muscle disease affects babies, children and adults, both males and females, and all ethnic groups. Conditions can be inherited or occur out of the blue where there is no family history.

The Walton Report

Symptoms

Some neuromuscualar diseases have symptoms that begin in infancy and others where the symptoms may appear in childhood or adulthood. Symptoms may present in different parts of the body depending on the type of the neuromuscular disorder and the affected biological structure[2].

It is worth noting that the neuromuscular disorders can be inherited or caused by a spontaneous gene mutation. There is also a possibility that a immune system reaction could lead to a neuromuscular disease.

Diagnosis

Some neuromuscular conditions are very rare and health professionals may not known much about them. The clinicians must conduct a profound medical examination and check the family history of the patient. It is vital that the patient's reflexes and muscle strength have being examined, along with the evaluation of other symptoms. Other tests which can help in finding the right diagnosis, may include:

    • genetic testing to confirm gene mutations or family history
    • muscle biopsy and examination of the level of CK (creatine kinase) in the tissues
    • blood test to check for elevated enzymes
    • electromyography (EMG) and/or magnetic resonance imaging (MRI)
    • nerve conduction studies to check the nerve signals that travel from nerve to muscle
    • collecting cerebrospinal fluid (CSF) via lumbar puncture to detect inflammation

There are over 150 different types of neuromuscular disorders and more are being discovered every year[3]. Some of the those conditions are listed below:

Conditions

A detailed list for more of the known neuromuscular disorders can be found here.

Treatments

Currently there is no cure for neuromuscular disorders. However, research is being conducted and various drugs and genetic therapies give hope of finding ways to cure those conditions[4]. At present, treating the symptoms, enhancing the quality of life and delaying disease progression has being successfully administered[5]. Physiotherapy, occupational therapy and surgery are all an important part of the overall management of children and adults with neuromuscular disorders.

Most patients will have regular assessments (between 6 and 12 months depending on the severity) where any concerns or changes must be noted. The physiotherapy protocol should record if deterioration or improvement have occurred; presence of pain, falls or issues at school need to be referred appropriately. Home adaptations should be put in place if the patient begin to lose function or become non-ambulant.

Independence in this cohort of patients should be main priority. The mobility skills need to be carefully assessed. For ambulant patients it is important to look at speed, distance, causes of stopping. For non-ambulant, the type of wheelchair may determine their level of independence.

Useful resources

The Muscular Dystrophy Campaign

Muscular Dystrophy UK


References

  1. Potikanond, S., et al. (2018). "Muscular Dystrophy Model." Adv Exp Med Biol 1076: 147-172.
  2. Nascimento Osorio, A., et al. (2018). "Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy." Neurologia.
  3. Wei, Y., et al. (2018). "The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities." Paediatr Child Health 23(1): 20-26.
  4. Mercuri, E. and F. Muntoni (2013). "Muscular dystrophy: new challenges and review of the current clinical trials." Curr Opin Pediatr 25(6): 701-707.
  5. Birnkrant, D. J., et al. (2018). "Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management." Lancet Neurol 17(3): 251-267.