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The normal presence of these channels [10] in axons of both the central nervous system [11] and peripheral nervous system accounts for the symptoms and signs arising from brain [12] and nerves. [13] The disease has been modelled in transgenic mice. [14] Dogs show a different phenotype from humans, with predominantly spinocerebellar ataxia. [15]
This condition was discovered in 1991 by Hahn et al., when they described two Chinese-Canadian siblings of the opposite sex. The male had difficulties releasing his grip, childhood-onset neuromyotonia and muscle stiffness, progressive motor neuropathy, finger cramping while and after writing, involuntary twitches of the finger, thigh and forearm muscles, foot drop-associated gait problems ...
Peripheral neuropathy may be classified according to the number and distribution of nerves affected (mononeuropathy, mononeuritis multiplex, or polyneuropathy), the type of nerve fiber predominantly affected (motor, sensory, autonomic), or the process affecting the nerves; e.g., inflammation (), compression (compression neuropathy), chemotherapy (chemotherapy-induced peripheral neuropathy).
Symptoms of sensory neuropathy may sometimes precede the cancer diagnosis by several months. Immune mediated sensory neuronopathy is commonly associated with Sjogrens syndrome. [5] Sjogren's is most commonly affected by a length dependent axonal sensorimotor neuropathy characterized by symptoms in the extremities.
Sural nerve biopsy; biopsy is considered for those patients in whom the diagnosis is not completely clear, when other causes of neuropathy (e.g., hereditary, vasculitic) cannot be excluded, or when profound axonal involvement is observed on EMG. Ultrasound of the peripheral nerves may show swelling of the affected nerves. [32] [33] [34]
Patients with hereditary motor and sensory neuropathies are diagnosed through a physical evaluation that looks for muscle atrophy, weakness, and sensory responses. [3] In addition to this, electromyography and motor nerve conduction tests can help clinicians decide what type of motor and sensory neuropathy it is and how severe the disease is.
CMT2 variants are typically referred to as axonal neuropathies due to the axonal degeneration observed. CMT2 variants are a result of damage to the nerve axons, rather than damage to the myelin sheath (as is the case with CMT1). Damaged axons cause slowed transmission of signals to the muscles and brain, causing symptoms including muscle ...
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. [1] Peripheral neuropathy is a general term that indicates any disorder of the peripheral nervous system . [ 2 ]