Advanced searches left 3/3

Peripheral Neuropathy - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 15 July 2022

* If you want to update the article please login/register

Andermann syndrome

Andermann syndrome is a condition that causes nerves used for muscle mobility and sensation to be harmed. People affected by Andermann syndrome have abnormal or absent reflexes, as well as poor muscle tone. Andermann syndrome suffers also in abnormal function of certain cranial nerves, which arise directly from the brain and spread to various areas of the head and neck. Cranial nerve disorders may lead to facial muscle sagging, drooping eyelids, and difficulty following eye movements. People with Andermann syndrome have an intellectual disorder, which may be mild to severe, and some people with seizures. Some people with Andermann syndrome have atypical physical appearance; a wide, short skull; a strong throat at the roof of the mouth; a large toe that crosses over the other toes; and partial fusion of the second and third toes.

Source link: https://medlineplus.gov/genetics/condition/andermann-syndrome


Hereditary sensory neuropathy type IA

Nervous neuropathy type IA is a disorder that is characterized by nerve abnormalities in the legs and feet. As they get older, affected individuals may also suffer muscle wasting and hunger. Walking can be strenuous because of ankle pains. Some people with hereditary sensory neuropathy disorder IA require wheelchair assistance as the disease progresses. Individuals with hereditary sensory neuropathy disorder IA have open sores on their feet or hands, or finger ulcers of the soft tissue of the fingertips that are slow to heal. IA, a hereditary sensory neuropathy disorder disorder, is a disorder that occurs in the inner ear. IA, hereditary sensory neuropathy type IA, can begin in childhood and late adulthood and persists throughout life. Although the effects of this disorder tend to exacerbate over time, affected people have a normal life expectancy if signs and symptoms are properly addressed.

Source link: https://medlineplus.gov/genetics/condition/hereditary-sensory-neuropathy-type-ia


Transthyretin amyloidosis

These protein deposits most often occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles, and sensory cells that detect sensations such as touch, pain, heat, and sound. There are three key types of transthyretin amyloidosis, which can be distinguished by their signs and body systems in which they affect. Transthyretin amyloidosis, a neuropathic form of transthyretin amyloidosis, predominantly affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and trouble controlling bodily functions. Some people have heart and kidney disease as well as heart and kidney disease. Various eye problems can arise, such as cloudiness of the clear gel that fills the eyeball, dry eyes, increased pressure in the eyes, or pupils with an irregular or "scalloped" appearance, such as cloudiness of the clear gel that fills the eyeball, dry eyes, increased pressure in the eyes. Carpal tunnel syndrome is a condition that causes numbness, tingling, and hand and finger weakness. Some people with this disorder can experience carpal tunnel syndrome. Transthyretin amyloidosis, a leptomeningeal disorder, has the most effect on the central nervous system. Eye problems in the neuropathic form may also exist. When people with leptomeningeal transthyretin amyloidosis have eye difficulties, they are thought to be in the oculoteneal form. Transthyretin amyloidosis affects the heart. Transthyretin amyloidosis, which occurs in the cardiac form, has a heart. An abnormal heartbeat, an enlarged heart, or orthostatic hypertension may be present in people with cardiac amyloidosis. Occasionally, people with transthyretin amyloidosis with heart disease have mild peripheral neuropathy.

Source link: https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis


Lattice corneal dystrophy type II

An accumulation of protein clumps called amyloid deposits in tissues throughout the body is characteristic of Lattice corneal dystrophy type II. Amyloid deposits can cause characteristic signs and symptoms involving the eyes, nerves, and skin that get worse with age. The amyloid deposits appear in the stromal layer, and in lattice corneal dystrophy type II, it is made up of several layers of tissue, and in lattice corneal dystrophy type II, the amyloid deposits form in the stromal layer. In addition, the corneal erosions that are caused by the separation of specific layers of the cornea from one another can occur in a chronic manner. Corneal erosions are painful and can cause sensitivity to brilliant light. As lattice corneal dystrophy type II progresses, nerves become involved, most often beginning in a person's forties. The amyloid deposits, according to experts, interfere with nerve function. Dysfunction of the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, and heat may cause sensation loss and limb weakness. People with lattice corneal dystrophy type II are also affected by skin fibrosis type II, with most people suffering in the early stages of a person's forties. People with this disorder may have thickened, sagging skin, especially on the scalp and forehead, and a condition called cutis laxa, which is defined by loose skin that lacks elasticity. The skin can also be dry and itchy. People with lattice corneal dystrophy type II may have a facial expression that seems sad because of their lack of skin and muscle paralysis in the face.

Source link: https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii


Hypomyelination and congenital cataract

Hypomyelination and congenital cataract is an inherited disease that affects the nervous system and the eyes. This disease is one of a string of genetic disorders called leukoencephalopathies. White matter is composed of nerve fibers coated by a fatty substance called myelin. Myelin insulates nerve fibers and promotes rapid nerve impulse transmission. In addition, people with this disorder are often born with a clouding of the lens in both eyes. People with this disorder tend to have normal growth during the first year of life. While most affected children learn to walk between the ages of 1 and 2, most children in the United States learn to walk between the ages of 1 and 2, although they do often need some form of assistance. Many elderly people eventually require wheelchair assistance, and many people who are chronically disabled begin to experience muscle cramps and wasting in their legs. Most people with hypomyelination and congenital cataract have a decreased sensation in their arms and legs.

Source link: https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract


Hereditary sensory and autonomic neuropathy type IE

Hereditary sensory and autonomic neuropathy disorder type IE is a condition that affects the nervous system. People with hearing loss in the inner ear are prone to anomalies in the inner ear. Personalities such as irritability, apathy, or a lack of impulse control can emerge in some people with HSAN IE, long before difficulties with reasoning skills become apparent. Peripheral neuropathy is a result of a lack of nerve cells called sensory neurons, which link sensory receptors such as pain, temperature, and touch. Walking is often painful in the feet and legs, which usually starts in adolescence or early adulthood for people with HSAN IE and persists as time passes. Some people with HSAN IE have recurring seizures and sleep problems. Even among family members of the same household, the severity and severity of HSAN IE and their age of onset are variable.

Source link: https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-ie


Ataxia with vitamin E deficiency

Vitamin E deficiency ataxia is a medical condition that causes the body's ability to use vitamin E obtained from food. Reticular pigmentosa, which causes vision loss, has been present in some people with this disorder. Those people with ataxia with vitamin E deficiency begin to have mobility difficulties between the ages of 5 to 15.

Source link: https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions