What are neuromuscular disorders? How are they diagnosed and treated? Explore the types, causes, and risk factors of these complex conditions.

Understanding Neuromuscular Disorders

Neuromuscular disorders are a group of conditions that affect the nerves responsible for controlling voluntary muscles and the nerves that transmit sensory information back to the brain. When these nerve cells, known as neurons, become unhealthy or die, the communication between the nervous system and muscles breaks down, leading to muscle weakness and atrophy.

Symptoms of Neuromuscular Disorders

The symptoms of neuromuscular disorders vary depending on the specific condition and the affected areas of the body. However, some common symptoms include muscle weakness, fatigue, muscle twitching, cramps, numbness, tingling, balance problems, and issues with swallowing or breathing.

Types of Neuromuscular Disorders

There are many different types of neuromuscular disorders, each with its own unique characteristics and challenges. Some common examples include:

• Amyotrophic lateral sclerosis (ALS)
• Charcot-Marie-Tooth disease
• Multiple sclerosis
• Muscular dystrophy
• Myasthenia gravis
• Myopathy
• Myositis (including polymyositis and dermatomyositis)
• Peripheral neuropathy
• Spinal muscular atrophy

Causes and Risk Factors

Neuromuscular disorders can be inherited or caused by spontaneous gene mutations. Some may also be associated with immune system disorders. Certain factors, such as genetics, physical or psychological trauma, and underlying medical conditions, can increase the risk of developing these disorders.

Diagnosis and Testing

Diagnosing a neuromuscular disorder typically involves a thorough medical history, physical examination, and various diagnostic tests. These may include blood tests, imaging scans, nerve conduction studies, electromyography, and muscle biopsies. Genetic testing can also help confirm the presence of specific gene mutations.

Treatment and Management

While there is no cure for most neuromuscular disorders, treatments aim to manage symptoms, delay disease progression, and improve the quality of life for patients. Medications, physical and occupational therapy, and in some cases, surgery, can all play a role in the management of these conditions.

The Importance of Multidisciplinary Care

Effective treatment of neuromuscular disorders often requires a multidisciplinary approach, involving a team of healthcare professionals, such as neurologists, physical therapists, occupational therapists, and respiratory therapists. This collaborative approach helps ensure that all aspects of the patient’s care are addressed.

What are the most common types of neuromuscular disorders? Neuromuscular disorders include conditions such as amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease, multiple sclerosis, muscular dystrophy, myasthenia gravis, myopathy, myositis, peripheral neuropathy, and spinal muscular atrophy.

How are neuromuscular disorders diagnosed? Diagnosing a neuromuscular disorder typically involves a combination of medical history, physical examination, and various diagnostic tests, such as blood tests, imaging scans, nerve conduction studies, electromyography, and muscle biopsies. Genetic testing may also be used to confirm specific gene mutations.

What are the treatment options for neuromuscular disorders? While there is no cure for most neuromuscular disorders, treatments focus on managing symptoms, delaying disease progression, and improving the patient’s quality of life. Medications, physical and occupational therapy, and in some cases, surgery, can all be part of the treatment plan.

Why is a multidisciplinary approach important for treating neuromuscular disorders? Effective management of neuromuscular disorders often requires a collaborative effort from a team of healthcare professionals, including neurologists, physical therapists, occupational therapists, and respiratory therapists. This multidisciplinary approach ensures that all aspects of the patient’s care are addressed and coordinated.

What are the common symptoms of neuromuscular disorders? Neuromuscular disorders can cause a variety of symptoms, including muscle weakness, fatigue, muscle twitching, cramps, numbness, tingling, balance problems, and issues with swallowing or breathing. The specific symptoms will depend on the type of disorder and the affected areas of the body.

Can neuromuscular disorders be inherited or caused by genetic factors? Yes, many neuromuscular disorders can be inherited or caused by spontaneous gene mutations. Some disorders may also be associated with immune system disorders or other underlying medical conditions.

How do neuromuscular disorders affect the body? Neuromuscular disorders disrupt the communication between the nervous system and the muscles, leading to muscle weakness and atrophy (wasting away) over time. This can impact various functions, such as movement, balance, swallowing, and breathing, depending on the specific condition and affected areas.

Neuromuscular Disorders | Cedars-Sinai

ABOUT

DIAGNOSIS

TREATMENT

Overview

Neuromuscular disorders affect the nerves that control voluntary muscles and the nerves that communicate sensory information back to the brain. Nerve cells (neurons) send and receive electrical messages to and from the body to help control voluntary muscles. When the neurons become unhealthy or die, communication between the nervous system and muscles breaks down. As a result, muscles weaken and waste away (atrophy).

Symptoms

There are many neuromuscular disorders, and treatment by an experienced multidisciplinary team, such as the one at Cedars-Sinai’s Neuromuscular Disorders Program, is vital.

These disorders result in muscle weakness and fatigue that progress over time. Some neuromuscular disorders have symptoms that begin in infancy, while others may appear in childhood or even adulthood. Symptoms will depend on the type of neuromuscular disorder and the areas of the body that are affected.

Some symptoms common to neuromuscular disorders include:

• Muscle weakness that 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 include:

• Amyotrophic lateral sclerosis (ALS)
• Charcot-Marie-Tooth disease
• Multiple sclerosis
• Muscular dystrophy
• Myasthenia gravis
• Myopathy
• Myositis, including polymyositis and dermatomyositis
• Peripheral neuropathy
• Spinal muscular atrophy

Causes and Risk Factors

Neuromuscular disorders can be inherited or caused by a spontaneous gene mutation; some also may be caused by immune system disorders.

Diagnosis

A physician will examine the patient and take a medical and family history. Checking a patient’s reflexes and muscle strength, as well as evaluating other symptoms, may lead a physician to order other diagnostic tests, including:

• Blood test to check for elevated enzymes
• Magnetic resonance imaging (MRI) scan of the brain and spinal cord
• Lumbar puncture (spinal tap) to check cerebrospinal fluid
• Electromyography (EMG) to record the electrical activity of each muscle
• Nerve conduction studies to see how well signals travel from nerve to muscle
• Muscle biopsy to examine a sample of muscle tissue under a microscope
• Genetic testing to confirm gene mutations

Treatment

Currently there is no cure for neuromuscular disorders. Research is being done on genetic therapies and new medications in hopes of finding a cure.

Treating symptoms, delaying disease progression and enhancing quality of life for patients is accomplished with medications, physical therapy, occupational therapy and, when necessary, surgery.

© 2000-2022 The StayWell Company, LLC. All rights reserved. This information is not intended as a substitute for professional medical care. Always follow your healthcare professional’s instructions.

Bone, Joint & Muscle | BIDMC of Boston

Arthritis

Arthritis is inflammation of the joint, which often causes pain and stiffness that can worsen with age. The most common types of arthritis are osteoarthritis and rheumatoid arthritis. Osteoarthritis causes cartilage—the hard tissue that covers the ends of bones where they form a joint—to break down. Rheumatoid arthritis is an autoimmune disorder that targets the lining of joints. Uric acid crystals, infections or underlying disease, such as psoriasis or lupus, can cause other types of arthritis.

Read More About Arthritis

Disc Disease

Degenerative disc disease is the term for normal changes in your spinal discs that occur with aging. Spinal discs are soft and compressible and act as shock absorbers for the spine, allowing you to bend, twist, etc.
With age there are changes to the discs because of injury, loss of fluid, tears, cracks, etc.
The degenerative disc condition typically occurs in the lower back and neck. Depending on the location of the affected disc, you may experience severe pain in your back, neck, arm and leg.

Read More About Disc Disease

Fibromyalgia

Fibromyalgia is caused by a number of factors including genetics, psychological or physical trauma or infections. You are more likely to develop fibromyalgia if you have other conditions like rheumatoid arthritis, osteoarthritis or lupus.
Women are more likely to develop fibromyalgia than are men. While there is no cure for fibromyalgia, a variety of medications can help control symptoms. Exercise, relaxation and stress-reduction measures also may help.

Read More About Fibromyalgia

Foot and Ankle

Foot and Ankle injuries are very common and include fractures, sprains, arthritis, plantar fasciitis, bunions etc.

Read More About Foot and Ankle

Gout

Gout is a particularly painful form of arthritis caused by a buildup of uric acid in the body which deposit in the joints.

Read More About Gout

Hand, Wrist and Elbow

Arthritis, fracture, carpal tunnel syndromes, tendinitis, cartilage injuries and tears are some of the common conditions we treat.

Read More About Hand, Wrist and Elbow

Infectious Arthritis

Infectious arthritis — sometimes referred to as septic arthritis — occurs when an infection spreads to a joint, causing inflammation with pain and swelling.

Read More About Infectious Arthritis

Lupus

Lupus is an inflammatory disease that can damage the skin, joints, kidneys and/or other organs. It’s an autoimmune disorder, meaning that it occurs when the immune system mistakenly attacks healthy cells.

Read More About Lupus

Musculoskeletal trauma and injuries

Musculoskeletal medicine helps in treating conditions affecting your muscles and bones, which can greatly limit your daily activities. Our physicians and nurse practitioners help treat your condition as well as help you manage pain.

Read More About Musculoskeletal trauma and injuries

Osteoarthritis

Osteoarthritis — also called degenerative joint disease — is the most common form of arthritis.
It occurs most often in middle-aged to elderly people when the protective cartilage on the ends of the bones wears down over time. It can occur in any joint of the body, though it typically appears in the hands, knees, hips and spine.

Read More About Osteoarthritis

Polychondrosis

Polychondrosis is a disease in which cartilage – the tissue that protects bones and joints – becomes inflamed.

Read More About Polychondrosis

Psoriasis Arthritis

Psoriatic arthritis is an inflammatory disorder that occurs in some people with psoriasis and is marked by joint inflammation.

Read More About Psoriasis Arthritis

Rheumatoid Arthritis

Rheumatoid arthritis (RA) is an autoimmune disorder, meaning that the immune system is attacking healthy tissue in your body – in this case the lining of the joints.

Read More About Rheumatoid Arthritis

Sarcoma

A sarcoma is a cancerous tumor of the bone or soft tissue. Soft tissues are the tissues that connect, support, or surround the body’s organs and structures. They include muscle, tendon, synovial tissue (around joints), fat, blood vessels, lymph vessels, and nerves. Sarcomas are divided into two main groups – bone sarcomas and soft tissue sarcomas. They are further sub-classified according to the type of cell found in the tumor. They all share certain microscopic characteristics and have similar symptoms.

Read More About Sarcoma

Spine Deformity

Though spine conditions are common, very few people need spinal. However, if you require surgery, our orthopaedic physicians will work closely with The Spine Center to provide our patients treatment options.

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Vasculitis

Vasculitis is inflammation of your blood vessels that can cause them to thicken, scar, and become weak and narrow.

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Visceral Pain

Visceral pain occurs when there is damage or disruption to internal organs and tissues in the pelvis, abdomen, chest or intestines. Visceral pain is vague, not localized, and often feels like a deep squeeze, pressure or aching feeling.

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Whiplash Injury

Whiplash occurs when the neck and head are suddenly forced backward and then forward, putting your spine through extreme stress. Most cases of whiplash are caused by car accidents though bungee jumping, rollercoaster rides and skiing can also cause whiplash.

Read More About Whiplash Injury

Muscle and connective tissue diseases. Muscle treatment without drugs

Question: What are muscle diseases?

Answer: Muscle disease or myopathy is a general term that characterizes the dysfunction of one or more (groups) of muscles.

Question: What are the causes and symptoms of muscle disease?

Answer: The most common symptoms are muscle pain (myalgia) and muscle weakness. Muscle diseases can be congenital or acquired. Congenital muscle diseases can be associated with genetic defects in muscle tissue (muscular dystrophy), or with congenital metabolic disorders (endocrine diseases).

The causes of acquired muscle diseases are very diverse, from physical overstrain to systemic diseases of the human body.

There are several types of muscle disorders:

• Myalgia – muscle pain, is the result of muscle tension, injuries and diseases of the musculoskeletal system. Myalgia is very often one of the symptoms of systemic diseases of the body – rheumatic, viral, immune, endocrine, infectious and neurological diseases. The appearance of myalgia is facilitated by the consequences of vaccination, the use of psychoactive and narcotic drugs, various drugs, or poisoning with poisons.
• Myositis – inflammation of the muscles, can be both an independent disease and a symptom of other diseases: viral infections – influenza, Epstein-Barr virus, herpes simplex, poliomyelitis, bacterial infections – strep throat, Lyme disease, tetanus, fungal infections – histoplasmosis and parasitic infections – malaria, toxoplasmosis, trichinosis.
• Fibromyalgia – chronic muscle pain associated both with disruption of the central nervous system and, mainly, with diseases of the spine and joints. The most common localization of pain in the muscles of the neck, back, shoulder, arms, spine and pelvic region. Fibromyalgic pain can range in intensity from mild to deep, and is sometimes accompanied by a burning, throbbing, or shooting pain. Sometimes pain and aches can be felt in all the muscles of the body. In addition to chronic pain, fibromyalgia is often accompanied by fatigue, sleep disturbance, depression, anxiety, memory loss, and impaired concentration.
• Myotonia is a neuromuscular disorder characterized by a pathological lack of relaxation (relaxation) of the muscles. Myotonia is caused by a disorder of the muscular membrane, and is often associated with hereditary neurological diseases. People with myotonia have unsteadiness, unsteadiness in gait, and weakness in the muscles of the face, neck, fingers, and ankles. In severe form, myotonia is manifested by progressive muscle degeneration, leading to muscular dystrophy.

Question: How to treat muscle diseases?

Answer: Methods of treatment are selected based on the causes of muscle disorders. In addition to the treatment of the underlying disease, for the treatment of muscle diseases, drug treatment is used (muscle relaxants, painkillers, non-steroidal anti-inflammatory drugs, anticonvulsants, antispasmodics, antidepressants), physiotherapy methods, massage, therapeutic exercises, spa treatment. Together with drug therapy, alternative methods of treatment are used – acupuncture, osteopathy.

Question: How are muscle diseases treated by kinesitherapy?

Answer: Methods of kinesitherapy should be used for all types of muscle diseases. Depending on the form and localization of the disease, special exercises are individually selected to help relieve spasms and improve the processes of muscle relaxation, strengthening, increasing flexibility, elasticity and range of motion.

Methods of kinesitherapy help to improve metabolic processes and blood circulation in the muscles, reduce the processes of dystrophy and degeneration. As a result of the application of kinesitherapy methods, the muscle corset is strengthened, pain disappears, the quality of life improves and the psychological state is restored.

Diseases of the joints – diagnosis and treatment at the medical center “Andreev hospitals”

Joint diseases in our century are a common phenomenon, ahead of oncological, cardiovascular diseases and diabetes. There are a lot of them, but it is customary to distinguish two main groups: inflammatory diseases of the joints – arthritis and degenerative changes in the joints – arthrosis.

At the heart of diseases of the joints from the group arthritis are inflammatory processes, which are determined by many different rheumatic (that is, affecting and connective tissue) diseases, often leading to disability. As a rule, most of these diseases are chronic, and are often not limited to damage only to the joints, but also involve internal organs (rheumatoid arthritis, Bechterew’s disease). There are studies proving that there is a hereditary predisposition to them. Various infections (for example, intestinal or urinary) can also cause arthritis, called reactive. Arthritis can occur with repeated minor injuries, open joint injuries, with frequent physical overexertion and hypothermia.

At the heart of arthrosis are metabolic-dystrophic processes that manifest themselves in cartilage atrophy, calcium salt deposits, bone tissue neoplasms, and so on. They can develop as a result of injuries, metabolic disorders, excessive physical activity, etc. Advanced arthrosis is fraught with immobility of the joint. I would like to note the fact that this is a fairly common disease: about 10-15% of people suffer from arthrosis. The main enemy of the joints is, of course, age. With age-related changes (already at the age of 35-40), the production of intra-articular lubrication decreases, cartilage is dehydrated and destroyed, calcium is washed out of the bones, bones become brittle – the risk of fractures increases.

Reasons

Joint diseases affect both men and women, occur even in children and young people, and very often in the elderly. Almost no one is immune from this disease. Degenerative changes in the joints (arthrosis) are often found in people who are characterized by: heavy physical exertion, especially requiring constant repetition of the same movements; overweight; metabolic disorder; disorders in the thyroid gland; scoliosis, flat feet; joint injury. The impetus for the development of arthritis is often: an infectious disease; autoimmune conflict; intoxication; hypothermia; violation of metabolic processes; avitaminosis; smoking; excess weight; severe stress on the joints; allergic diseases, etc.

Symptoms

Arthritis is characterized by redness and fever of the skin over the swollen joint, limited mobility, pain on palpation, stiffness in the joints. Perhaps a general increase in temperature, weakness, weight loss. As a rule, the pain increases with movement. In some types of arthritis, inflammation of the periarticular tissues is observed: capsules, ligaments, tendons.

The characteristic symptoms of arthrosis are pain during exertion, subsiding at rest, limited range of motion, crunching in the joint, muscle tension in the joint area, occasional swelling, weather ache, and gradual deformation of the joint.

All these symptoms should not be ignored, since the progression of the disease leads to a significant limitation of the mobility of the diseased joint. It must be clearly understood that untreated or undertreated joint diseases are a direct road to disability. If there is pain, then something is happening in the joint. Action must be taken, and urgently!

Diagnosis

When diagnosing joint lesions, it is important to conduct a thorough examination to determine the nature of the disease, since treatment tactics largely depend on this. To clarify the presence of inflammatory, infectious and autoimmune disorders, blood tests are performed, x-rays are used to clarify the degree of damage to the joints, and ultrasound and MRI of the joints are used to clarify the presence of damage to the ligamentous apparatus.

Prevention and treatment

For prevention of joint diseases , it is necessary to follow a diet, lead a physically active lifestyle, avoid especially prolonged hypothermia, sudden and heavy physical exertion leading to injury.

Most arthritis are treated by a rheumatologist, as these diseases require long-term and persistent therapy aimed at preventing recurrent exacerbations and slowing down the progression of the disease.

Medicines that are used for arthrosis , for the most part, have an effect that is aimed only at relieving the pain symptom and inflammatory reaction, but does not fight the cause of the disease. These are analgesics, nonsteroidal anti-inflammatory drugs, corticosteroids, psychotropic drugs, and muscle relaxants. With the blockade method, the anesthetic device is injected directly into the focus of pain – into the so-called trigger points in the joints, as well as into the places of the nerve plexuses. Ointments and rubbing for external use are often used, which have a warming, analgesic, distracting effect, and physiotherapy also helps in the same way.

Unfortunately, it should be noted that the so-called. chondroprotectors, although they bring a certain clinical effect, do not affect the inhibition of the progression of the disease.

The joints affected by the disease need to move, therefore, under the guidance of a doctor, you need to choose a program of physical therapy exercises and determine their intensity. Modern medicine is able to fight pain, slow down the deformity of the joints and help a person to maintain working capacity. Surgery is resorted to if other treatment fails. Surgery is the only way to replace the affected joint.

I would like to note that some diseases of the joints develop very rapidly and are extremely dangerous because they threaten disability. And only a specialist can find out. That is why you should not postpone a visit to the doctor if you already have signs of an incipient joint disease.