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There are hundreds of rare diseases that affect muscle and nerve function. Stiff-person syndrome is largely a diagnosis of exclusion, meaning that all other possibilities have been ruled out.
The following represents the short list.
Amyotrophic lateral sclerosis (ALS), aka "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost and in the later stages, patients become totally paralyzed. More information
Anxiety and phobia accompany SPS, however, patients do not have true agoraphobia. They are more afraid of falling while out than afraid to leave their home. Most people generally manage to control their fears and carry out daily activities without incident. But people with true anxiety, specific phobias, or strong irrational fear reactions, work hard to avoid common places, situations, or objects even though they know there's no threat or danger. More information
Botulism is caused by a toxin (poison) made by a bacterium called Clostridium botulinum that occurs naturally in soil. Foodborne botulism comes from eating foods contaminated with the toxin. Symptoms include double or blurred vision, drooping eyelids, slurred speech, difficulty swallowing, dry mouth, and muscle weakness. More information
Chronic Tetany is a condition where all of the nerve cells in the body are activated, which then stimulate the muscles, causing spasms or cramps throughout the body. Dystonic cramps, in which muscles that are not needed for the intended movement are stimulated to contract, include those that ordinarily work in the opposite direction of the intended movement, and/or others that exaggerate the movement. Some dystonic cramps usually affect small groups of muscles (eyelids, jaws, neck, larynx, etc.). The hands and arms may be affected during the performance of repetitive activities such as those associated with handwriting (writer's cramp), typing, playing certain musical instruments, and many others. Each of these repetitive activities may also produce true cramps from muscle fatigue. Hypocalcemia is the most frequent cause.
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. More information
Congenital myopathies A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up. Some cases have been reported as adult onset or as a progressive course.
Cramp-fasciculation syndrome is a chronic condition that causes fasciculations, cramps, pain, fatigue, and muscle stiffness, and sometimes paresthesisas similar to those seen in neuromyotonia. Fasciculation is the only abnormality (if any) seen with EMG. More information
Dystonia is a disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures. The movements may be painful, and some individuals with dystonia may have a tremor or other neurologic features. There are several different forms of dystonia that may affect only one muscle, groups of muscles, or muscles throughout the body. Adult-onset dystonia usually is located in one or adjacent parts of the body, most often involving the neck and/or facial muscles. More information
Endocrine myopathy can occur when a gland produces too much or too little of a hormone.
Hyperthyroid myopathy is a muscle disease caused by overproduction of thyroid hormones
from the thyroid gland. This disease commonly involves weakness and wasting of muscles
around the shoulders and sometimes the hips. There also can be weakness in muscles
of the face and throat, and in the respiratory muscles. Hypothyroid myopathy is a
muscle disease caused by deficient hormone production from the thyroid gland. The
most common symptoms include weakness around the hips and sometimes the shoulders,
and a slowing of reflexes. Some people also experience muscle stiffness and painful
Fibromyalgia is a disorder that causes muscle pain and fatigue. People with fibromyalgia have "tender points" on the body. Tender points are specific places on the neck, shoulders, back, hips, arms, and legs. These points hurt when pressure is put on them. Other symptoms include: morning stiffness, headaches, painful menstrual periods, tingling or numbness in hands and feet, problems with thinking and memory. More information
Huntington's chorea has two forms: Adult-onset is the most common. Persons with this form usually develop symptoms in their mid 30s and 40s. Behavior changes may occur before movement problems, and can include: hallucinations, irritability, moodiness, restlessness or fidgeting, paranoia, psychosis, abnormal facial movements, including grimaces, head turning to shift eye position, quick, sudden, sometimes wild jerking movements of the arms, legs, face, and other body parts, slow, uncontrolled movements, unsteady gait, dementia that slowly gets worse, anxiety, stress, and tension, difficulty swallowing, and speech impairment. More information
Hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. Some individuals with this condition have a low tolerance for crowded places and loud noises. Affected individuals who have epilepsy have the disorder throughout their lives. More information
Inclusion-body myositis is characterized by chronic, progressive muscle inflammation accompanied by gradual onset of muscle weakness over months or years and affects both proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. Muscle weakness may affect only one side of the body. Falling and tripping are usually the first noticeable symptoms. For some individuals, the disorder begins with weakness in the wrists and fingers that causes difficulty with pinching, buttoning, and gripping objects. There may be weakness of the wrist and finger muscles and atrophy (thinning or loss of muscle bulk) of the forearm muscles and quadriceps muscles in the legs. Difficulty swallowing occurs in approximately half of IBM cases. Symptoms of the disease usually begin after the age of 50, although the disease can occur earlier. More information
Isaac’s Syndrome is caused by hyperexcitability and continuous firing of the peripheral nerve axons that activate muscle fibers. Symptoms, which include progressive muscle stiffness, continuously contracting or twitching muscles (myokymia), cramping, increased sweating, and delayed muscle relaxation occuring even during sleep or when individuals are under general anesthesia, and weakened reflexes and muscle pain, Numbness is relatively uncommon. Stiffness is most prominent in limb and trunk muscles, although symptoms can be limited to cranial muscles. Speech and breathing may be affected if pharyngeal or laryngeal muscles are involved. Most individuals experience symptoms before age 40. It is caused by antibodies that bind to potassium channels on the motor nerve. More information
Lambert-Eaton myasthenic syndrome is an autoimmune disease in which antigens attack acetylcholine, the chemical that transmits impulses between nerves and muscles. Initially, LEMS can cause leg weakness and difficulty walking. Like myasthenia gravis (MG), it also can result in weakness of the eye muscles and those involved in talking, swallowing, and chewing. The main clinical difference between MG and LEMS is that in MG, the person gets weaker with exertion, and in LEMS, the person gets stronger, at least temporarily.
Metabolic and mitochondrial myopathies are caused by defects in cellular energy metabolism, including the breakdown of carbohydrates and fatty acids to generate adenosine triphosphate, predominantly through mitochondrial oxidative phosphorylation. Accordingly, the three main categories of metabolic myopathies are glycogen storage diseases, fatty acid oxidation defects, and mitochondrial disorders due to respiratory chain impairment. More information
Motor neuron disease is a group of progressive neurological disorders that destroy motor neurons, the cells that control essential voluntary muscle activity such as speaking, walking, breathing, and swallowing. When there are disruptions in the signals between the lowest motor neurons and the muscle, the muscles do not work properly; the muscles gradually weaken and may begin wasting away and develop uncontrollable twitching (called fasciculations). When there are disruptions in the signals between the upper motor neurons and the lower motor neurons, the limb muscles develop stiffness (called spasticity), movements become slow and effortful, and tendon reflexes such as knee and ankle jerks become overactive. Over time, the ability to control voluntary movement can be lost. More information
Multiple sclerosis is an immune-mediated process in which antigens attack myelin — the fatty substance that surrounds and insulates the nerve fibers — as well as the nerve fibers themselves. The damaged myelin forms scar tissue (sclerosis), which gives the disease its name. Symptoms include numbness, tingling, dizziness, vertigo, weakness, gait difficulties, spasticity, vision problems, bladder and bowel dysfunction, cognitive changes, and depression. More information
Muscular dystrophy is a group (9+) of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.
Parkinson’s disease belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells.The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance and coordination. As these symptoms become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. PD usually affects people over the age of 50. Other symptoms may include depression and other emotional changes; difficulty in swallowing, chewing, and speaking; urinary problems or constipation; skin problems; and sleep disruptions. More information
Peripheral neuropathy describes damage to the peripheral nervous system, the vast communications network that transmits information from the brain and spinal cord to every other part of the body. Peripheral nerves also send sensory information back to the brain and spinal cord, such as a message that the feet are cold or a finger is burned. Damage to the peripheral nervous system interferes with these vital connections. Some people may experience temporary numbness, tingling, and pricking sensations (paresthesia), sensitivity to touch, or muscle weakness. Others may suffer more extreme symptoms, including burning pain (especially at night), muscle wasting, paralysis, or organ or gland dysfunction. People may become unable to digest food easily, maintain safe levels of blood pressure, sweat normally, or experience normal sexual function. In the most extreme cases, breathing may become difficult or organ failure may occur. More information
Polymyositis is a rare inflammatory disease that leads to muscle weakness, swelling tenderness, and tissue damage. The exact cause is unknown, but it may be related to an autoimmune reaction or infection. It most common in adults between ages 50 and 70, and in children ages 5 to 15. It affects women twice as often as men. It is more common in African Americans than Caucasians. Polymyositis affects the whole body. Common symptoms include: difficulty swallowing, muscle pain, muscle weakness in the proximal muscles (shoulders, hips, etc.) this can make it hard to raise the arms over the head, get up from a sitting position, or climb stairs. problems with the voice (caused by weak throat muscles), and shortness of breath. More information
Spinal cord trauma causes weakness and loss of feeling at, and below the injury. How severe symptoms are depends on whether the entire cord is severely injured (complete) or only partially injured (incomplete). Injuries at and below the first lumbar vertebra do not cause spinal cord injury. However, they may cause "cauda equina syndrome" -- injury to the nerve roots in this area. Injuries at any level can cause: Increased muscle tone (spasticity), loss of normal bowel and bladder control (may include constipation, incontinence, bladder spasms), numbness, sensory changes, pain, weakness, and paralysis. When spinal cord injuries occur in the neck area, symptoms can affect the arms, legs, and middle of the body. The symptoms may occur on one or both sides of the body. Symptoms can also include breathing difficulties from paralysis of the breathing muscles, if the injury is high up in the neck. When spinal injuries occur at chest level, symptoms can affect the legs. Injuries to the cervical or high thoracic spinal cord may also result in blood pressure problems, abnormal sweating, and trouble maintaining normal body temperature.When spinal injuries occur at the lower back level, symptoms can affect one or both legs, as well as the muscles that control the bowels and bladder. More information
Torticollis dystonia, also called spasmodic torticollis, is a painful condition in which your neck muscles contract involuntarily, causing your head to twist or turn to one side. Cervical dystonia can also cause your head to uncontrollably tilt forward or backward. It can occur at any age, even infancy, cervical dystonia most often occurs in middle-aged people, women more than men. Symptoms generally begin gradually and then reach a point where they don't get substantially worse. There is no cure for cervical dystonia. The disorder sometimes resolves without treatment, but sustained remissions are uncommon.