Most commonly known as Lou Gehrig’s disease, ALS is a rapidly progressive disease that attacks the nerve cells responsible for controlling voluntary muscles. The onset of ALS may be so subtle that the earliest symptoms are often overlooked. They include cramps, tight and stiff muscles, weakness in an arm or leg, slurred and nasal speech, and difficulty chewing or swallowing. These general complaints eventually develop into more obvious weakness or atrophy.

Regardless of the part of the body first affected by the disease, muscle weakness and atrophy will spread to other parts of the body as the disease progresses. Although the sequence of emerging symptoms and the rate of disease progression vary from person to person, anyone with the disease will eventually lose the ability to stand, walk, or get in and out of bed. During later stages of the disease, individuals have difficulty breathing as the muscles of the respiratory system weaken. In most cases, ALS is ultimately fatal due to respiratory failure.

Austin Neuromuscular Center is dedicated to improving the quality of life of those with ALS. After using diagnostic tools at our clinic to assess the severity of the disease, we will develop an ALS therapy plan that is personalized to the patient’s needs. ANC also conducts a multidisciplinary ALS Clinic every third Tuesday of the month offering compassionate and comprehensive care for ALS patients and their families. Our ALS Clinic has been recognized as an ALS Association Certified Treatment Center of Excellence.

As a disorder that affects muscle control during voluntary movements, ataxia can affect movements such as walking, speaking, swallowing, and eye movements. Many conditions can cause ataxia, including alcohol abuse, strokes, tumors, or multiple sclerosis. The condition can also be passed on genetically.

Autonomic disorders affect involuntary body functions, such as heart rate, blood pressure, and digestion. Primary symptoms of autonomic disorders include positional lightheadedness or fainting, heat intolerance, heart palpitations, excessive fatigue or thirst, constipation, and urinary retention. They are commonly associated with peripheral neuropathy and could be caused by metabolic disorders, infections, or genetics. Our onsite autonomic functions lab allows us to diagnose your specific issues and develop a treatment plan that is just right for you.

Charcot-Marie-Tooth (CMT) disease is a genetic disorder (most commonly on the PMP22 gene) causing progressive peripheral neuropathy with numbness, weakness, and some characteristic musculoskeletal changes. Common symptoms are muscle weakness in the legs, ankles, and feet, high foot arches, and curled toes. Diagnosis involves EMG/NCS testing and genetic testing.

CIDP is thought to be caused by a glitch in the immune system, where it mistakenly attacks the myelin sheath of the peripheral nerves. Symptoms of CIDP include numbness and tingling of the lower and upper extremities, muscle weakness and fatigue, loss of balance and possibly falling. Neurological exams usually show loss of tendon reflexes, sensation, and weakness. It can be diagnosed through electrodiagnostic tests (EMG/NCS), a neurological exam, lumbar puncture, and sometimes by nerve biopsy. CIDP can be treated through intravenous immune globulin (IVIG), glucocorticoids, and by plasma exchange.

Dermatomyositis, a type of idiopathic inflammatory myopathy, is a rare inflammatory disease that causes muscle weakness, pain, and skin rashes that are usually red or purple. Patients can also have trouble talking or swallowing. Both children and adults can be affected by dermatomyositis.

Hereditary amyloidosis is caused by an inherited gene mutation. Abnormal proteins called amyloid build up in different body parts, including the peripheral nerves, autonomic nerves, and heart. The amyloid deposits can also affect the kidneys, liver, eyes, carpal ligaments, and the gastrointestinal system. These proteins can originate in the liver (TTR) or the bone marrow (light chain amyloid). We diagnose and treat neuropathy due to hereditary and wild-type amyloidosis (TTR protein) as well as light-chain amyloidosis.

Myositis is the inflammation of muscles in the upper arms and legs. Symptoms include muscle weakness, fatigue, and joint pain. Depending on the type of myositis, other body systems could be involved such as the skin, lung, heart, and GI system. As the name suggests (idiopathic), it is unknown what causes myositis, but it is considered to be an autoimmune disease. Myositis is generally divided to 3 types: Polymyositis, Necrotizing myositis, and Dermatomyositis, as well as Inclusion Body Myopathy (IBM). Depending on the severity of myositis and the time of diagnosis, it’s generally treated with immune suppression medications such as steroids, methotrexate, Cellcept, and other types of immune modulating agents like IVIG or Rituxan. For further information on Myositis, please visit https://rarediseases.info.nih.gov/diseases/9128/idiopathic-inflammatory-myopathy.

This chronic autoimmune disease is characterized by a dysfunction of the neuromuscular junction, which causes muscle weakness. Myasthenia gravis is the most common type of neuromuscular junction disorder, followed by Lambert-Eaton myasthenic syndrome and botulism.

The neuromuscular junction (NMJ) is a complex structure that communicates electrical impulses from the nervous system to voluntary muscles. Most patients suffering from myasthenia gravis experience double vision (caused by weakened eye muscles), difficulty swallowing, slurred speech, fatigue, and general weakness. We offer myasthenia gravis treatment at the Austin Neuromuscular Center, but even with treatment, the disease can be progressive and may even eventually cause respiratory failure.

Click here to read our guide to understanding and treating Myasthenia Gravis

This muscle disease presents with muscle weakness or pain due to muscle dysfunction. There are several types of myopathies, and they can be hereditary, autoimmune, inflammatory, or toxic. In most cases, myopathies are treatable; however, as with peripheral neuropathies, they are sometimes progressive and even fatal.

With peripheral neuropathy, there has been damage to the peripheral nervous system, which is the communication network that transmits information from the brain and spinal cord to every other part of the body. This class of disorders can be either hereditary or acquired, and it can involve damage to only nerve (mononeuropathy), multiple nerves (polyneuropathy), or even two or more isolated nerves in separate areas of the body (mononeuritis multiplex).

With this class of disorders, patients experience pain, numbness, tingling, and weakness. While a number of cases are progressive and disabling, peripheral neuropathy treatment is available for some of these disorders, so it is important that an accurate diagnosis is made.

Many types of peripheral neuropathy have been identified, each with its own characteristic set of symptoms, pattern of progression, and prognosis. Some of the more common types include diabetic neuropathy, as well as acute and chronic immune-mediated neuropathies such as Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy (CIDP).

Pompe disease is a genetic condition in which a complex sugar called glycogen builds up in the lysosomes of the body’s cells and causes muscle and respiratory weakness. This is diagnosed with genetic testing (GAA gene) but may include EMG/NCS and blood tests. Treatment involves enzyme replacement therapy in addition to supportive care.

SFN is a subtype of peripheral neuropathy with symptoms that include burning pain, numbness and tingling, limb discoloration, and autonomic symptoms. SFN is often misdiagnosed as fibromyalgia. The causes of SFN are similar to peripheral neuropathy – it can be acquired or inherited. In order to establish an accurate diagnosis, we use electromyography and nerve conduction studies (EMG/NCS), autonomic testing, and a skin biopsy.

Spasticity is a condition in which there is an abnormal increase in muscle tone or stiffness of muscles. The condition can interfere with movement or speech, and it can cause discomfort and pain. The muscle disease can typically be traced back to damage to nerve pathways within the brain or spinal cord that control muscle movement. Symptoms can include increased muscle tone, uncontrollable rapid muscle contractions, exaggerated deep tendon reflexes, muscle spasms, scissoring (an involuntary crossing of the legs), and fixed joints. The most common causes of spasticity are ALS, nutritional deficiencies, and genetics.

Austin neurologist Dr. Hussain can often treat spasticity, though the prognosis depends largely on the severity of the symptoms and the associated disorder.

Stiff person syndrome is a rare neurological disorder that causes progressive muscle stiffness, rigidity, and spasms. It is thought to be an autoimmune condition in which antibodies (i.e., GAD65 in some cases) will block the body’s ability to relax muscles. Treatment is initially symptomatic and, if ineffective, can involve immune-modulating therapy.

Congenital myopathy is a generic term for any muscle disease present at birth (but may be noticed later in adulthood). Symptoms include muscle weakness and lack of muscle tone.

Muscular dystrophy is an inherited group of progressive muscle diseases caused by defects in genes involved with muscle development, function, and repair. More common subtypes include Duchenne’s Muscular Dystrophy, Myotonic Dystrophy, and Limb-Girdle Muscular Dystrophy.

Hereditary Spastic Paraplegia (HSP) is a group of genetically inherited disorders characterized by varied degrees of muscle weakness and tightness (spasticity) , usually confined to the arms, trunk, and legs. The symptoms may present in childhood or adulthood.

Spinal muscular atrophy (SMA) is a group of inherited disorders that cause progressive muscle weakness and atrophy. It is divided into 4 subtypes, depending on the age of onset and involves mutations on the SMN1 gene. Diagnosis involves EMG/NCS and genetic testing, and newly approved targeted treatments can be used to target the underlying disease mechanisms in addition to supportive care.