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Giant axonal neuropathy usually appears in infancy or early childhood, and is progressive. Early signs of the disorder often present in the peripheral nervous system, causing individuals with this disorder to have problems walking. Later, normal sensation, coordination, strength, and reflexes become affected.
The peripheral nervous system ... 3D Medical Animation still shot of Lumbosacral Plexus ... Diseases of the peripheral nervous system can be specific to one or more ...
Peripheral neuropathy may first be considered when an individual reports symptoms of numbness, tingling, and pain in feet. After ruling out a lesion in the central nervous system as a cause, a diagnosis may be made on the basis of symptoms, laboratory and additional testing, clinical history, and a detailed examination.
PMP22 point mutations, such as the frameshift mutation Gly94fsX222 (c.281_282insG), can cause clinical overlap between PNPP and Charcot–Marie–Tooth disease type 1A. Missense, nonsense, and splice site mutations have been described. [10] PMP22 encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin. [11]
Hypertrophic condition causes neural stiffness and a demyelination of nerves in the peripheral nervous system, and atrophy causes the breakdown of axons and neural cell bodies. [1] In these disorders, a patient experiences progressive muscle atrophy and sensory neuropathy of the extremities. [2]
Sensory neuronopathy (also known as sensory ganglionopathy) is a type of peripheral neuropathy that results primarily in sensory symptoms (such as parasthesias, pain or ataxia) due to destruction of nerve cell bodies in the dorsal root ganglion. [1]
A neuronopathy affects the cell body of a nerve cell in the peripheral nervous system. [5] Amyotrophic lateral sclerosis; Spinal muscular atrophy; Spinal muscular atrophy with respiratory distress type 1; Atypical motor neuron diseases; Dorsal root ganglion disorders
These sensations are impaired in people with HSAN2. In some affected people, the condition may also cause mild abnormalities of the autonomic nervous system, which controls involuntary body functions such as heart rate, digestion, and breathing. The signs and symptoms of HSAN2 typically begin in infancy or early childhood.