Leber's disease


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neuropathy

 [noo͡-rop´ah-the]
any of numerous functional disturbances and pathologic changes in the peripheral nervous system. The etiology may be known (e.g., arsenical, diabetic, ischemic, or traumatic neuropathy) or unknown. encephalopathy and myelopathy are corresponding terms relating to involvement of the brain and spinal cord. The term is also used to designate noninflammatory lesions in the peripheral nervous system, in contrast to inflammatory lesions (neuritis). adj., adj neuropath´ic.
alcoholic neuropathy neuropathy due to thiamine deficiency in chronic alcoholism.
Denny-Brown's sensory neuropathy hereditary sensory radicular neuropathy.
diabetic neuropathy a complication of diabetes mellitus consisting of chronic symmetrical sensory polyneuropathy affecting first the nerves of the lower limbs and often affecting autonomic nerves. Pathologically, there is segmental demyelination of the peripheral nerves. An uncommon, acute form is marked by severe pain, weakness, and wasting of proximal and distal muscles, peripheral sensory impairment, and loss of tendon reflexes. With autonomic involvement there may be orthostatic hypotension, nocturnal diarrhea, retention of urine, impotence, and small diameter of the pupils with sluggish reaction to light.
entrapment neuropathy any of a group of neuropathies, such as carpal tunnel syndrome, caused by mechanical pressure on a peripheral nerve.
hereditary motor and sensory neuropathy (HMSN) any of a group of hereditary polyneuropathies involving muscle weakness, atrophy, sensory deficits, and vasomotor changes in the lower limbs. Some diseases in this group have been numbered: types I and II are varieties of Charcot-Marie-Tooth disease and type III is progressive hypertrophic neuropathy.
hereditary sensory neuropathy hereditary sensory radicular neuropathy.
hereditary sensory and autonomic neuropathy (HSAN) any of several inherited neuropathies that involve slow ascendance of lesions of the sensory nerves, resulting in pain, distal trophic ulcers, and a variety of autonomic disturbances. Types include hereditary sensory radicular neuropathy and familial dysautonomia.
hereditary sensory radicular neuropathy a dominantly inherited polyneuropathy characterized by signs of radicular sensory loss in both the upper and lower limbs; shooting pains; chronic, indolent, trophic ulceration of the feet; and sometimes deafness. Called also hereditary sensory neuropathy and Denny-Brown's sensory neuropathy or syndrome.
Leber's optic neuropathy a maternally transmitted disorder characterized by bilateral progressive optic atrophy, with onset usually at about the age of twenty. Degeneration of the optic nerve and papillomacular bundle results in progressive loss of central vision that may remit spontaneously. It is much more common in males. Called also Leber's disease and Leber's optic atrophy.
progressive hypertrophic neuropathy a slowly progressive familial disease beginning in early life, marked by hyperplasia of interstitial connective tissue, causing thickening of peripheral nerve trunks and posterior roots, and by sclerosis of the posterior columns of the spinal cord, with atrophy of distal parts of the legs and diminution of tendon reflexes and sensation. Called also Dejerine's disease and Dejerine-Sottas disease.
serum neuropathy a neurologic disorder, usually involving the cervical nerves or brachial plexus, occurring two to eight days after the injection of foreign protein, as in immunization or serotherapy for tetanus, diphtheria, or scarlet fever, and characterized by local pain followed by sensory disturbances and paralysis. Called also serum neuritis.

Leber's disease

(1) Amaurosis congenita of Leber (see there):
• Type I, OMIM:204000;
• Type II, OMIM:204100. 
(2) Leber hereditary optic neuropathy (see there), OMIM:308900.

Leber's hereditary optic atrophy

A mitochondrial inherited bilateral condition, which appears suddenly in healthy people, primarily males, of about the age of 20 and results in a marked loss of vision and ultimately optic atrophy. A very small percentage of people recover some visual acuity in one or both eyes after the disease has run its course (Fig. L6). Syn. Leber's disease; Leber's hereditary optic neuropathy. See optic atrophy; inheritance; mito-chondrion.
Fig. L6 Leber′s hereditary optic atrophy (From Kanski 2007, with permission of Butterworth-Heinemann)enlarge picture
Fig. L6 Leber′s hereditary optic atrophy (From Kanski 2007, with permission of Butterworth-Heinemann)
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