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. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925).
Paresthesia is an abnormal sensation of the skin with no apparent physical cause. Paresthesia may be transient or chronic, and may have many possible underlying causes. Paresthesias are usually painless and can occur anywhere on the body, but most commonly occur in the arms and legs.
Peripheral neuropathy, often shortened to neuropathy, is a general term describing damage or disease affecting the nerves. Damage to nerves may impair sensation, movement, gland, or organ function depending on which nerves are affected; in other words, neuropathy affecting motor, sensory, or autonomic nerves result in different symptoms. More than one type of nerve may be affected simultaneously. Peripheral neuropathy may be acute or chronic, and may be reversible or permanent.
Polyneuropathy is damage or disease affecting peripheral nerves in roughly the same areas on both sides of the body, featuring weakness, numbness, and burning pain. It usually begins in the hands and feet and may progress to the arms and legs and sometimes to other parts of the body where it may affect the autonomic nervous system. It may be acute or chronic. A number of different disorders may cause polyneuropathy, including diabetes and some types of Guillain–Barré syndrome.
Neuralgia is pain in the distribution of one or more nerves, as in intercostal neuralgia, trigeminal neuralgia, and glossopharyngeal neuralgia.
Bone marrow examination refers to the pathologic analysis of samples of bone marrow obtained by bone marrow biopsy and bone marrow aspiration. Bone marrow examination is used in the diagnosis of a number of conditions, including leukemia, multiple myeloma, lymphoma, anemia, and pancytopenia. The bone marrow produces the cellular elements of the blood, including platelets, red blood cells and white blood cells. While much information can be gleaned by testing the blood itself, it is sometimes necessary to examine the source of the blood cells in the bone marrow to obtain more information on hematopoiesis; this is the role of bone marrow aspiration and biopsy.
Lymph node biopsy is a test in which a lymph node or a piece of a lymph node is removed for examination under a microscope.
Tarsal tunnel syndrome (TTS) is a nerve entrapment syndrome causing a painful foot condition in which the tibial nerve is compressed as it travels through the tarsal tunnel. This tunnel is found along the inner leg behind the medial malleolus. The posterior tibial artery, tibial nerve, and tendons of the tibialis posterior, flexor digitorum longus, and flexor hallucis longus muscles travel in a bundle through the tarsal tunnel. Inside the tunnel, the nerve splits into three segments. One nerve (calcaneal) continues to the heel, the other two continue on to the bottom of the foot. The tarsal tunnel is delineated by bone on the inside and the flexor retinaculum on the outside.
Meralgia paresthetica or meralgia paraesthetica is numbness or pain in the outer thigh not caused by injury to the thigh, but by injury to a nerve that extends from the spinal column to the thigh.
Morton's neuroma is a benign neuroma of an intermetatarsal plantar nerve, most commonly of the second and third intermetatarsal spaces, which results in the entrapment of the affected nerve. The main symptoms are pain and/or numbness, sometimes relieved by ceasing to wear footwear with tight toe boxes and high heels. The condition is named after Thomas George Morton, though it was first correctly described by a chiropodist named Durlacher.
Optic neuropathy is damage to the optic nerve from any cause. The optic nerve is a bundle of millions of fibers in the retina that sends visual signals to the brain. [1].
Dysesthesia is an unpleasant, abnormal sense of touch. Its etymology comes from the Greek word "dys," meaning "bad," and "aesthesis," which means "sensation". It often presents as pain but may also present as an inappropriate, but not discomforting, sensation. It is caused by lesions of the nervous system, peripheral or central, and it involves sensations, whether spontaneous or evoked, such as burning, wetness, itching, electric shock, and pins and needles. Dysesthesia can include sensations in any bodily tissue, including most often the mouth, scalp, skin, or legs.
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.
The endometrial biopsy is a medical procedure that involves taking a tissue sample of the lining of the uterus. The tissue subsequently undergoes a histologic evaluation which aids the physician in forming a diagnosis.
Ulnar neuropathy is a disorder involving the ulnar nerve. Ulnar neuropathy may be caused by entrapment of the ulnar nerve with resultant numbness and tingling. It may also cause weakness or paralysis of the muscles supplied by the nerve.
Skin biopsy is a biopsy technique in which a skin lesion is removed to be sent to a pathologist to render a microscopic diagnosis. It is usually done under local anesthetic in a physician's office, and results are often available in 4 to 10 days. It is commonly performed by dermatologists. Skin biopsies are also done by family physicians, internists, surgeons, and other specialties. However, performed incorrectly, and without appropriate clinical information, a pathologist's interpretation of a skin biopsy can be severely limited, and therefore doctors and patients may forgo traditional biopsy techniques and instead choose Mohs surgery. There are four main types of skin biopsies: shave biopsy, punch biopsy, excisional biopsy, and incisional biopsy. The choice of the different skin biopsies is dependent on the suspected diagnosis of the skin lesion. Like most biopsies, patient consent and anesthesia are prerequisites.
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.
Renal biopsy is a medical procedure in which a small piece of kidney is removed from the body for examination, usually under a microscope. Microscopic examination of the tissue can provide information needed to diagnose, monitor or treat problems of the kidney.
Nerve compression syndrome, or compression neuropathy, or nerve entrapment syndrome, is a medical condition caused by chronic, direct pressure on a peripheral nerve. It is known colloquially as a trapped nerve, though this may also refer to nerve root compression. Its symptoms include pain, tingling, numbness and muscle weakness. The symptoms affect just one particular part of the body, depending on which nerve is affected. The diagnosis is largely clinical and can be confirmed with diagnostic nerve blocks. Occasionally imaging and electrophysiology studies aid in the diagnosis. Timely diagnosis is important as untreated chronic nerve compression may cause permanent damage. A surgical nerve decompression can relieve pressure on the nerve but cannot always reverse the physiological changes that occurred before treatment. Nerve injury by a single episode of physical trauma is in one sense an acute compression neuropathy but is not usually included under this heading, as chronic compression takes a unique pathophysiological course.
Peripheral mononeuropathy is a nerve related disease where a single nerve, that is used to transport messages from the brain to the peripheral body, is diseased or damaged. Peripheral neuropathy is a general term that indicates any disorder of the peripheral nervous system. The name of the disorder itself can be broken down in order to understand this better; peripheral: in regard to peripheral neuropathy, refers to outside of the brain and spinal cord; neuro: means nerve related; -pathy; means disease. Peripheral mononeuropathy is a disorder that links to Peripheral Neuropathy, as it only effects a single peripheral nerve rather than several damaged or diseased nerves throughout the body. Healthy peripheral nerves are able to “carry messages from the brain and spinal cord to muscles, organs, and other body tissues”.
