Neuromuscular Diseases - Symptoms, Risk factors and Treatment

Neuromuscular diseases are the ones that affect the nerves that regulate the voluntary muscles and act as communication within the whole body. Inside the brain, nerve fibers are present that are protected with a myelin sheath that acts as a protective layer. If the myelin sheath is damaged, it leads to a communication problem between your brain and the rest of the body. The cells of the nerves, also known as neurons, are responsible to transmit information in the form of electrical impulses from one place to another. They carry the message from the brain to the organ and result in the action. If anything affects them, if they become unhealthy or die, it can disrupt the whole signaling mechanism, resulting in disruption of nerve impulses. Due to this, muscles are affected, eventually resulting in muscle wasting. 

Symptoms 

The most common signs and symptoms of the neuromuscular disease are fatigue and weakness. These symptoms may worsen as the disease progresses. They may show up in infancy, childhood, or even childhood. They may show up as; 

• Double vision

• Trouble swallowing

• Trouble breathing

• Muscle weakness that can lead to twitching, cramps, aches, and pains

• Muscle loss

• Movement issues

• Balance problems

• Numbness, tingling, or painful sensations

• Droopy eyelids

Conditions causing neuromuscular diseases 

Conditions that cause neuromuscular diseases are;

• Amyotrophic lateral sclerosis (ALS)

• Botulism

• Cramp-fasciculation syndrome

• Myasthenia gravis

• Myotonic dystrophy

• Neuromuscular junction disorders

• Neuromyotonia (Isaacs syndrome)

• Elevated creatine kinase

• Fasciculations

• Motor neuron disease

• Muscle disorders

• Muscular dystrophy

• Peripheral neuropathy

• Congenital myasthenic syndromes

• Congenital myopathies

• Inclusion-body myositis

• Lambert-Eaton syndrome

• Mitochondrial myopathy

• Polymyositis

Causes and risk factors

Neuromuscular diseases can occur due to reasons like;

• Genetic tendency

• Gene mutation 

• Autoimmune diseases

Diagnosis 

The healthcare providers will take your complete history and check your reflexes. They will also focus on your family history. Make sure you tell them all the information accurately as it is essential to make a final diagnosis. They will also check your muscle's strength, your ability to hold things, and a complete history of the symptoms. Moreover, they will order other diagnostic tests to confirm the diagnosis. These diagnostic tests can be;

• Blood test

• MRI (magnetic resonance imaging)

• Lumbar puncture, also known as a spinal tap 

• Genetic testing 

• Muscle biopsy

• Nerve conduction studies

• Electromyography (electromyography)

Neuromuscular diseases are the ones that affect the nerves that regulate the voluntary muscles and act as communication within the whole body. The most common signs and symptoms of the neuromuscular disease are fatigue and weakness. The healthcare providers will take your complete history and check your reflexes. After the diagnosis, they will prescribe medications that can help manage the symptoms. Physiotherapy may help in the management of symptoms sometimes.