Nerves that regulate voluntary muscles and nerves that relay sensory data to the brain are impacted by neuromuscular diseases. To help control voluntary muscles, nerve cells, or neurons, transmit and receive electrical signals to and from the body.
Communication between the nervous system and muscles is disrupted when neurons deteriorate or die. Muscles deteriorate and weaken as a result (atrophy).
Symptoms for Neuromuscular Disorder
Numerous neuromuscular problems exist, and they must be treated by a skilled multidisciplinary team, like the one at Cedars-Neuromuscular Sinai’s Disorders Program.
Muscle weakness and weariness brought on by these illnesses worsen over time. While the symptoms of some neuromuscular illnesses first manifest in children, those of others might develop as children or even adults.
The specific neuromuscular condition and the body regions involved will determine the symptoms.
Some symptoms common to neuromuscular disorders include:
Muscle weakness can lead to twitching, cramps, aches, and pains.
- Muscle loss
- Movement issues
- Balance problems
- Numbness, tingling, or painful sensations
- Droopy eyelids
- Double vision
- Trouble swallowing
- Trouble breathing
Types of Neuromuscular Disorders
Skeletal muscles, peripheral nerves, or the neuromuscular junction can all be impacted by neuromuscular diseases. All types of neuromuscular problems are treated by our program, including:
Amyotrophic Lateral Sclerosis (Als) Or Lou Gehrig’s Disease:
The motor neurons in the brain and spinal cord that govern muscles are lost in the neurodegenerative condition known as amyotrophic lateral sclerosis (ALS).
A life-threatening impairment of the breathing and swallowing muscles develops from this, which causes progressive muscle weakness that eventually leads to physical limitations.
Charcot-Marie-Tooth (CMT) Disease and Other Inherited Neuropathies:
The most widely used term for a wide range of hereditary neuropathies is Charcot-Marie-Tooth disease (CMT). More than 70 distinct genes are known to cause CMT, and Penn clinician-scientists have discovered some of them.
With 1 in 2,500 people affected, the various types of CMT are among the most prevalent inherited neurological illnesses.
Chronic Inflammatory Demyelinating Polyneuropathy (Cidp):
A neuromuscular condition called CIDP is characterized by progressively weaker legs and limbs and reduced sensory function. It is an autoimmune neuropathy typically brought on by damage to the peripheral nerves myelin sheath, which serves as an insulator for the nerve and safeguards the nerve fibers underneath.
Guillain-Barré Syndrome (Gbs):
GBS is an acute neuropathy in which the body’s immune system attacks a portion of the peripheral nerve system. The insulation surrounding the nerve and safeguarding the underlying nerve fibers, known as the myelin sheath, is typically damaged in cases of autoimmune neuropathy.
After the disease’s initial clinical signs, the neurologic symptoms develop over a few days or weeks.
Lambert-Eaton Syndrome:
Antibodies inhibit muscles from contracting correctly in Lambert-Eaton syndrome. The patient’s body produces these antibodies, which cause proximal weakness in the legs and arms.
Muscular Dystrophies:
A variety of hereditary illnesses known as muscular dystrophies are characterized by increasing weakness brought on by the deterioration of the muscles that control movement.
Some kinds first appear in childhood, while others could start later in life. The patterns of inheritance, rates of advancement, and distribution of muscular weakening vary amongst the illnesses.
Myasthenia Gravis (Mg):
A neuromuscular autoimmune condition known as myasthenia gravis (MG) causes variable degrees of weakening in the body’s voluntary muscles.
In addition to any combination of double vision, droopy eyelids, difficulty eating or swallowing, slurred speech, neck weakness, limb weakness, or shortness of breath, many muscles can be affected.
Myopathies:
Muscle weakness is the main symptom of a wide range of diseases known as acquired myopathies. Progressive limb weakness due to muscle dysfunction is most common in the arms and legs.
Myopathy has a variety of reasons, including those brought on by muscular inflammation (polymyositis, dermatomyositis, and inclusion body myositis). Various medical conditions and specific medications, such as those used to treat high blood cholesterol, can also lead to myopathy.
Peripheral Neuropathies:
A wide range of diseases known as peripheral neuropathies all damage the body’s nerve cells that are not located in the brain or spinal cord.
These conditions can result in various neurologic symptoms, such as numbness, discomfort, and weakness in the arms, hands, legs, and feet.
Diagnosing Neuromuscular Disorders
Neuromuscular disease diagnosis can be a complex process. Other illnesses affecting nerves and muscles might cause comparable symptoms, including numbness and weakness.
Penn’s Neuromuscular Disorders Program provides consultations and thorough neurodiagnostic testing to assist with challenging diagnoses.
A Penn neuromuscular specialist examines each patient’s medical file and conducts a thorough neuromuscular assessment. Our specialists occasionally make use of our cutting-edge neurodiagnostic facilities.
Diagnostic testing includes:
- Biochemical and genetic testing
- Computerized tomography (CT)
- Lumbar puncture (spinal tap)
- Magnetic resonance imaging (MRI)
- Nerve and muscle biopsy
- Nerve conduction studies and electromyography (EMG)
How Are Neuromuscular Disorders Managed And Treated?
Neuromuscular diseases are incurable. Instead, treatment is recommended to lessen symptoms and prevent the disease from worsening.
Medications may include:
- Medicines to treat stiffness, cramping, and muscle pain.
- Medications to treat nerve impulses and muscle strength.
- If autoimmune conditions are the etiology of an illness, immunosuppressants.
- Using large doses of immunoglobulin to develop antibodies.
Other treatments include:
- Physical treatment to improve motor skills and muscle tone.
- Surgery to relieve pressure on the nerves in cases of neuropathy or myasthenia gravis.
- Occupational therapy to teach new strategies for carrying out daily duties while conserving energy, or thymus removal in cases of myasthenia gravis.
