Hereditary Neuropathies

Among the hereditary neuropathies include different congenital degenerative peripheral neuropathies.

(See also summary of disorders of the peripheral nervous system.)

Among the hereditary neuropathies include different congenital degenerative peripheral neuropathies. (See also overview of disorders of the peripheral nervous system.) Hereditary neuropathies are classified as motor and sensory Sensory and autonomic neuropathies Hereditary motor neuropathies may occur primarily or be derived from other genetic disorders such as Refsum’s disease, porphyria and Fabry disease. Motor and sensory neuropathy There are three main types (I, II and III), all begin in childhood. Some less common forms employ at birth and lead to a more severe disability. Type I and II (variants of M. Charcot-Marie-Tooth, and peroneal muscular atrophy called) are the most common; It is usually around autosomal dominant disease, but they can also be linked to the X chromosome. Type I results from a duplication (additional copy) of the peripheral myelin protein-22 gene (PMP22), which is located on the short arm of chromosome 17th Type I and Type II are characterized by weakness and atrophy, v. a. in Peroneal- and distal leg muscles. Patients often have a family history of neuropathy. The natural course of the disease varies: Some patients are asymptomatic and have only reduced conduction velocities (acquired by studies of nerve conduction); others are more affected. Patients with Type I may be noticeable by a foot drop and a slowly progressive atrophy of the distal leg muscles, resulting in “stork leg deformity” in middle childhood. The intrinsic muscle wasting in the hands begins later. Vibration, pain and temperature sensation can by in a stocking-and glove-shaped pattern. Deep tendon reflexes are absent. A hollow foot or hammer toes may have a family history, the feature supports are to be the only finding. The nerve conduction velocities are slow, and distal latencies are prolonged. Segmental demyelination and remyelination occur. Enlarged peripheral nerves may be palpated. The disease progresses slowly and life expectancy does not change. In a subtype wise men to severe symptoms, women have mild symptoms or are unaffected. Type II develops more slowly; Paresis usually occur in later life. Patients have relatively normal nerve conduction velocities but low amplitude in the sensory nerve action potentials and muscle compound action potentials. Biopsies show axonal (Waller) to degeneration. Type III (hypertrophic interstitial neuropathy, Dejerine-Sottas syndrome) is a rare autosomal recessive disorder, begins in childhood with progressive weakness, sensory deficits and lack of deep tendon reflexes. Although it has initial resemblance to M. Charcot-Marie-Tooth, but motor weakness progresses rapidly. Demyelination and remyelination occur and result in thickened peripheral nerves and “onion tubers” that are detected by a nerve biopsy. Sensory and autonomic neuropathies Hereditary sensory and autonomic neuropathies are rare. It described five types. The loss of distal pain and temperature sensation is offset by the loss of vibration and position sense in the foreground. The main complication is the mutilation of the feet due to the lack of pain perception, leading to a high risk of infections and osteomyelitis. Diagnosis Clinical examination Electro-diagnostic tests The characteristic distribution of motor weakness, foot deformities and the family history suggests the diagnosis should be confirmed by electrodiagnostic testing. Genetic analysis is available. Treatment Supportive treatment rails help in correcting the case foot; orthopedic surgery to Fußstabilisierung can be helpful. Physiotherapy (to strengthen the muscles) and occupational therapy can help; Professional advice can help to prepare young patients on maintaining their professional skills despite progression of the disease. Important points hereditary neuropathies can affect motor and sensory nerves, sensory nerves, sensory and autonomic nerves or only the motor nerves. There are three main types, which vary in severity and rate of progression; all begin in childhood. Use braces to correct a foot drop and recommend physiotherapy and occupational therapy to help patients maintain the function; sometimes orthopedic surgery is necessary.

Health Life Media Team

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