Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder affecting about one in 2,500 people. Currently, there are no curative treatments for this disorder, with care focused on maintaining function. CMT was previously classified as a subtype of muscular dystrophy.
Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.
Benign fasciculation syndrome (BFS) is characterized by fasciculation (twitching) of voluntary muscles in the body. The twitching can occur in any voluntary muscle group but is most common in the eyelids, arms, hands, fingers, legs, and feet. The tongue can also be affected. The twitching may be occasional to continuous. BFS must be distinguished from other conditions that include muscle twitches.
Irritable bowel syndrome (IBS) is a group of symptoms—including abdominal pain and changes in the pattern of bowel movements without any evidence of underlying damage. These symptoms occur over a long time, often years. It has been classified into four main types depending on whether diarrhea is common, constipation is common, both are common, or neither occurs very often. IBS negatively affects quality of life and may result in missed school or work. Disorders such as anxiety, major depression, and chronic fatigue syndrome are common among people with IBS.
Whipple's disease is a rare, systemic infectious disease caused by the bacterium Tropheryma whipplei. First described by George Hoyt Whipple in 1907 and commonly considered a gastrointestinal disorder, Whipple's disease primarily causes malabsorption but may affect any part of the body including the heart, brain, joints, skin, lungs and the eyes. Weight loss, diarrhea, joint pain, and arthritis are common presenting symptoms, but the presentation can be highly variable and approximately 15% of patients do not have these classic signs and symptoms.
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body including the kidneys, heart, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with the function of an enzyme which processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. It is inherited in an X-linked manner.
Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal (GI) tract. Impairment can be of single or multiple nutrients depending on the abnormality. This may lead to malnutrition and a variety of anaemias.
Cyclic vomiting syndrome (CVS) is a chronic functional condition of unknown pathogenesis. CVS is characterized as recurring episodes lasting a single day to multiple weeks. Each episode is divided into four phases: inter-episodic, prodrome, vomiting, and recovery. Inter-episodic phase, is characterized as no discernible symptoms, normal everyday activities can occur, and this phase typically lasts one week to one month. The prodrome phase is known as the pre-emetic phase, characterized by the initial feeling an approaching episode, still able to keep down oral medication. Emetic or vomiting phase is characterized as intense persistent nausea, and repeated vomiting typically lasting hours to days. Recovery phase is typically the phase where vomiting ceases, nausea diminishes or is absent, and appetite returns. This syndrome is most commonly seen in children usually between ages 3 and 7, however adult diagnosis is quite common. This disorder is thought to be closely related to migraines and family history of migraines.
A volvulus is when a loop of intestine twists around itself and the mesentery that supports it, resulting in a bowel obstruction. Symptoms include abdominal pain, abdominal bloating, vomiting, constipation, and bloody stool. Onset of symptoms may be rapid or more gradual. The mesentery may become so tightly twisted that blood flow to part of the intestine is cut off, resulting in ischemic bowel. In this situation there may be fever or significant pain when the abdomen is touched.
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty-acid metabolism disorder which prevents the body from converting certain fats to energy, particularly during periods without food.
Abdominal distension occurs when substances, such as air (gas) or fluid, accumulate in the abdomen causing its expansion. It is typically a symptom of an underlying disease or dysfunction in the body, rather than an illness in its own right. People suffering from this condition often describe it as "feeling bloated". Sufferers often experience a sensation of fullness, abdominal pressure, and sometimes nausea, pain, or cramping. In the most extreme cases, upward pressure on the diaphragm and lungs can also cause shortness of breath. Through a variety of causes, bloating is most commonly due to buildup of gas in the stomach, small intestine, or colon. The pressure sensation is often relieved, or at least lessened, by belching or flatulence. Medications that settle gas in the stomach and intestines are also commonly used to treat the discomfort and lessen the abdominal distension.
Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain wave activity, it can be categorized as myoclonic seizure. If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered.
Intestinal pseudo-obstruction is a clinical syndrome caused by severe impairment in the ability of the intestines to push food through. It is characterized by the signs and symptoms of intestinal obstruction without any lesion in the intestinal lumen. Clinical features can include abdominal pain, nausea, severe distension, vomiting, dysphagia, diarrhea and constipation, depending upon the part of the gastrointestinal tract involved. The condition can begin at any age and it can be a primary condition or caused by another disease (secondary).
Nutcracker esophagus, or hypertensive peristalsis, is a disorder of the movement of the esophagus characterized by contractions in the smooth muscle of the esophagus in a normal sequence but at an excessive amplitude or duration. Nutcracker esophagus is one of several motility disorders of the esophagus, including achalasia and diffuse esophageal spasm. It causes difficulty swallowing, or dysphagia, to both solid and liquid foods, and can cause significant chest pain; it may also be asymptomatic. Nutcracker esophagus can affect people of any age, but is more common in the sixth and seventh decades of life.
Small fiber peripheral neuropathy is a type of peripheral neuropathy that occurs from damage to the small unmyelinated peripheral nerve fibers. These fibers, categorized as C fibers and small Aδ fibers, are present in skin, peripheral nerves, and organs. The role of these nerves is to innervate the skin and help control autonomic function. It is estimated that 15-20 million people in the United States have some form of peripheral neuropathy.
Ulnar nerve entrapment is a condition where the ulnar nerve becomes physically trapped or pinched, resulting in pain, numbness, or weakness, primarily affecting the little finger and ring finger of the hand. Entrapment may occur at any point from the spine at cervical vertebra C7 to the wrist; the most common point of entrapment is in the elbow. Prevention is mostly through correct posture and avoiding repetitive or constant strain. Treatment is usually conservative, including medication, activity modification and exercise, but may sometimes include surgery. Prognosis is generally good, with mild to moderate symptoms often resolving spontaneously.
Gastroparesis, also called delayed gastric emptying, is a medical disorder consisting of weak muscular contractions (peristalsis) of the stomach, resulting in food and liquid remaining in the stomach for a prolonged period of time. Stomach contents thus exit more slowly into the duodenum of the digestive tract.
Hereditary motor and sensory neuropathies (HMSN) is a name sometimes given to a group of different neuropathies which are all characterized by their impact upon both afferent and efferent neural communication. HMSN are characterised by atypical neural development and degradation of neural tissue. The two common forms of HMSN are either hypertrophic demyelinated nerves or complete atrophy of neural tissue. Hypertrophic condition causes neural stiffness and a demyelination of nerves in the peripheral nervous system, and atrophy causes the breakdown of axons and neural cell bodies. In these disorders, a patient experiences progressive muscle atrophy and sensory neuropathy of the extremities.
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation.
A neurological disorder is any disorder of the nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord or other nerves can result in a range of symptoms. Examples of symptoms include paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. There are many recognized neurological disorders, some relatively common, but many rare. They may be assessed by neurological examination, and studied and treated within the specialities of neurology and clinical neuropsychology.
