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Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease and KCC3 axonopathy among other names, [1] is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus callosum.
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).
The causes of nerve damage are grouped into categories including those due to paraneoplastic causes (neuropathy secondary to cancer), immune mediated, infectious, inherited or degenerative causes and those due to toxin exposure. In idiopathic sensory neuronopathy no cause is identified. Idiopathic causes account for about 50% of cases. [2]
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]
Peripheral neuropathy and mononeuropathy are common neurological disorders, with a diverse range of variables and causes to conclude a diagnosis. [2] Neuropathy has three sub-classifications; mononeuropathy is a result of an entrapped or traumatised nerve or nerve area, Mononeuropathy multiplex is linked to chronic diseases like leprosy, and ...
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 .
Acute motor axonal neuropathy (AMAN) is a variant of Guillain–Barré syndrome. It is characterized by acute paralysis and loss of reflexes without sensory loss. Pathologically , there is motor axonal degeneration with antibody-mediated attacks of motor nerves and nodes of Ranvier .
The early names of the inherited neuropathies were given after the most prominent features or the suggested underlying mechanism of the diseases, such as mal perforant du pied, ulcero-mutilating neuropathy, hereditary perforating ulcers, familial trophoneurosis, familial syringomyelia, hereditary sensory radicular neuropathy, among others.
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