Neuromedicine Specialties: Neuromuscular Disorders

The University of Florida neuromuscular division is a group of faculty and staff in the Department of Neurology at UF dedicated to improving the condition of patients suffering from neuromuscular disorders while conducting a wide array of research projects aimed at better understanding the mysteries behind neuromuscular action and dysfunction.


Acute cerebellar ataxia

Ataxia is an umbrella term that refers to the loss of full control of bodily movements. Acute cerebellar ataxia is a sudden form of ataxia that stems from damage or inflammation of the cerebellum, which is the region of the brain that governs gait and muscle coordination. Those suffering from this condition often exhibit clumsy speech pattern, repetitive or uncoordinated eye movements or walking problems.

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Amyotrophic Lateral Sclerosis

Lou Gehrig’s disease, or Amyotrophic Lateral Sclerosis (ALS), is a progressive condition that involves the motor system of the body producing weakness of all muscles including breathing and swallowing. Although at this time, there is no cure for ALS, there are many treatments available that can improve the quality of life and prolong survival. Researchers at UF and across the country are actively working to understand the disease and develop new options for care.

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Becker muscular dystrophy

Becker muscular dystrophy is a type of muscular dystrophy, which is a condition that produces muscle weakness and loss of muscle tissue over time. This type is a variant of Duchenne muscular dystrophy and is marked by muscle weakness that gradually progresses. While it shares similarities to the Duchenne type in many ways, the Becker form is rarer and worsens at a much slower rate. It also allows the voluntary muscles to function better, although the heart muscle can potentially be affected the same as it is in the Duchenne form.

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Charcot-Marie-Tooth disease

This condition is one of the most common inherited neurological disorders. Charcot-Marie-Tooth disease refers to a group of inherited disorders that affect the peripheral nerves, those outside the brain and spine that supply the muscles and sensory organs in the limbs. The most impacted nerves are motor nerves, which are those that stimulate movement. Nerves in the legs are affected first, while the arms and hands may experience symptoms as the disease progresses.

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Choroidal dystrophy

Choroidal dystrophy is an eye disorder that first presents itself with peripheral vision loss and vision loss at night. The condition affects the choroid, which is a layer of blood vessels that reside between the sclera and retina.

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Duchenne muscular dystrophy

Unlike other types of muscular dystrophy, Duchenne muscular dystrophy worsens rapidly. As an inherited disorder, it’s more commonly seen in boys because of the manner in which it’s inherited. Symptoms may include fatigue, intellectual disability, muscle weakness and increased difficulties walking.

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Facioscapulohumeral muscular dystrophy

Another form of muscular dystrophy, the facioscapulohumeral variant mainly affects the upper body, specifically the face, shoulder and upper arm muscles. Symptoms are usually mild and very gradually become more pronounced. Although it affects men and women equally, men typically have more symptoms than women.

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Fuchs’ dystrophy

This condition is an eye disease in which the cells lining the inside of the cornea gradually die, resulting in swelling on the front of your eye. This produces cloudy vision, glare and eye discomfort. Risk factors for Fuchs’ dystrophy include sex (often occurs more in women than men), family history of the condition and age (symptoms don’t usually develop until age 50). In most cases, both eyes are affected.

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Friedreich’s ataxia

This form of ataxia, also known as spinocerebellar degeneration, is a genetic disease that impacts the muscles and heart. The first sign of Friedreich’s ataxia is difficulty walking. Those that experience this condition suffer from deterioration of structures in parts of the brain and spinal cord that control coordination, muscle movement and other functions. There’s no cure for Friedreich’s ataxia, so the goal for treatment is to address the underlying conditions and symptoms.

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Hypotonia is characterized by loss of muscle tone, in other words the amount of tension or resistance to stretch in a muscle. Although it is sometimes called floppy baby syndrome, it affects children or adults. Hypotonia is often accompanied by reduced muscle strength and may be a sign of a problem associated with factors that control muscle movement.

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Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophies are a collection of at least 18 different inherited disorders that involve muscle weakness or wasting. Initially, these disorders affect the muscles around the shoulder girdle and hips, but other muscles may eventually be impacted as these disorders progress. The first indication of these diseases is pelvic muscle weakness.

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Multiple sclerosis

Multiple sclerosis is marked by damage to the protective covering that surrounds nerve cells, which leads to nerve signals slowing or stopping altogether. This damage is due to inflammation, which stems from the body’s own immune system attacking the nervous system. Multiple sclerosis affects the brain and spinal cord, or central nervous system.

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Muscular dystrophy

There are many different types of muscular dystrophy, all of which are inherited and cause muscle weakness and loss of muscle tissue over time. Different forms of muscular dystrophy affect different groups of muscles, they progress at varying rates, and they have symptoms with different levels of severity.

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Myasthenia gravis

Myasthenia gravis is a type of autoimmune disorder in which the body produces antibodies that block muscle cells from retrieving messages from the nerve cells. Myasthenia gravis results in weakness of the voluntary muscles, or muscles that can be controlled, and it becomes more severe with activity and less severe with rest. This condition can affect individuals at any age.

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Myopathy (Muscle disorder) 

Myopathy refers to any disorder of the muscle. Myopathies refer to a trend of muscular issues, with the main symptom being weakness. Stiffness or cramps can also be common. Muscles cannot work as effectively as they should in people dealing with a myopathy. This can be the case if the muscles experience improper development, damage or a lack of critical components.

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Peripheral neuropathy

Peripheral neuropathies are characterized by issues with the flow of information to and from the brain, or the flow of information to and from the spinal cord to the rest of the body. The nerves that are responsible for this function are peripheral nerves. Damage to one nerve or multiple nerves can produce a peripheral neuropathy, and this damage can cause nerves anywhere in the body to not operate correctly. Many health conditions can cause a neuropathy, the most frequent being diabetes.

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Cerebral spinal fluid (CSF) collection

Cerebrospinal fluid, or CSF, collection is a test to look at the fluid that surrounds the brain and spinal cord. CSF acts as a cushion, protecting the brain and spine from injury. The fluid is normally clear. It has the same consistency as water. The test is also used to measure pressure in the spinal fluid.

There are different ways to get a sample of CSF. Lumbar puncture, or spinal tap, is the most common method.

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Creatine phosphokinase test

Creatine phosphokinase, or CPK, is an enzyme in the body. It is found mainly in the heart, brain, and skeletal muscle. This article discusses the test to measure the amount of CPK in the blood.

A blood sample is needed. This may be taken from a vein. The procedure is called venipuncture.

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CT scan

A computed tomography scan, or CT scan, is an imaging method that uses X-rays to create pictures of cross-sections of the body.

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Deep brain stimulation

Deep brain stimulation, or DBS, uses a device called a neurostimulator to deliver electrical signals to the areas of the brain that control movement, pain, mood, weight, and awakening.

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An electrocardiogram, or ECG, is a test that records the electrical activity of the heart.

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Electromyography, or EMG, is a test that checks the health of the muscles and the nerves that control the muscles.

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Electroretinography is a test to measure the electrical response of the eye's light-sensitive cells, called rods and cones. These cells are part of the retina, the back part of the eye.

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Fluorescein angiography

Fluorescein angiography is an eye test that uses a special dye and camera to look at blood flow in the retina and choroid. These are the two layers in the back of the eye.

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Head MRI

A head MRI, or magnetic resonance imaging, is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. It does not use radiation.

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Mental status testing

Mental status testing is done to check a person's thinking ability, and to determine if any problems are getting better or worse. It is also called neurocognitive testing.

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Muscle biopsy

A muscle biopsy is the removal of a small piece of muscle tissue for examination.

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Nerve biopsy

A nerve biopsy is the removal of a small piece of a nerve for examination.

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Nerve conduction velocity

Nerve conduction velocity, or NCV, is a test to see how fast electrical signals move through a nerve. This test is done along with electromyography to assess the muscles for abnormalities.

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Pulmonary function tests

Pulmonary function tests are a group of tests that measure breathing and how well the lungs are functioning.

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Slit-lamp exam

The slit-lamp examination looks at structures that are at the front of the eye.

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Visual acuity test

The visual acuity test is used to determine the smallest letters you can read on a standardized chart, often called a Snellen chart, or a card held 20 feet away. Special charts are used when testing at distances shorter than 20 feet. Some Snellen charts are actually video monitors showing letters or images.

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X-rays are a type of electromagnetic radiation, just like visible light. An X-ray machine sends individual X-ray particles through the body. The images are recorded on a computer or film.

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