The Experts below are selected from a list of 87 Experts worldwide ranked by ideXlab platform
Chamindra G Konersman - One of the best experts on this subject based on the ideXlab platform.
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erythromelalgia a novel mutation in scn9a causing chronic neuropathic Burning Feet Syndrome without classic skin findings p5 025
Neurology, 2016Co-Authors: Jigar Mankad, Chamindra G KonersmanAbstract:Objective: To report a case of Erythromelalgia without classic skin findings. Background: Erythromelalgia, also known as red neuralgia is a condition caused by mutation of voltage-gated sodium channel (alpha subunit gene SCN9A ) . We report a case of erythromelalgia causing chronic neuropathic Burning without classic skin changes. Introduction: A 43 years old African American man with a history of supposed juvenile myopathy and lactic acidosis was referred to Neurology clinic for Burning Feet for further diagnostic evaluation. Patient had a history of generalized muscle aches and Burning in bilateral Feet since childhood. Although he wanted to become a football player, the inability to tolerate shoes for a long time precluded this ambition. Gradually worsening symptoms since age 21 years (1990) eventually prompted him to seek further medical care. Carbamazepine effectively controlled the Burning pain in the Feet. Methods: Electromyography/nerve conductions and muscle biopsy performed at age 21 years of age (1990) were unremarkable. Onset of similar symptoms in the son by age 7 years (2014) prompted further work up to consider a genetic etiology, specifically, erythromelaglia. Results: A novel mutation of SCN 9A, c.733C>G (p.Leu245Val) , the gene implicated in erythromelalgia, that segregates only with the symptomatic individuals of his family. The patient, son, brother and nephew, all of whom were symptomatic, carried the same mutation. The characteristic redness and swelling was notably absent in our patient and his son. Discussion: The absence of the hallmark erythema and edema of the Feet likely delayed diagnosis. This case illustrates the importance of considering erythromelalgia if there is a family history of similar symptoms even in the absence of typical features. Knowing the genetic diagnosis allows for prognostication, substantiates his diagnosis and improves overall outlook of his medical condition. Disclosure: Dr. Mankad has nothing to disclose. Dr. Konersman has nothing to disclose.
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erythromelalgia a novel mutation in scn9a causing chronic neuropathic Burning Feet Syndrome without classic skin findings p5 025
Neurology, 2016Co-Authors: Jigar Mankad, Chamindra G KonersmanAbstract:Objective: To report a case of Erythromelalgia without classic skin findings. Background: Erythromelalgia, also known as red neuralgia is a condition caused by mutation of voltage-gated sodium channel (alpha subunit gene SCN9A ) . We report a case of erythromelalgia causing chronic neuropathic Burning without classic skin changes. Introduction: A 43 years old African American man with a history of supposed juvenile myopathy and lactic acidosis was referred to Neurology clinic for Burning Feet for further diagnostic evaluation. Patient had a history of generalized muscle aches and Burning in bilateral Feet since childhood. Although he wanted to become a football player, the inability to tolerate shoes for a long time precluded this ambition. Gradually worsening symptoms since age 21 years (1990) eventually prompted him to seek further medical care. Carbamazepine effectively controlled the Burning pain in the Feet. Methods: Electromyography/nerve conductions and muscle biopsy performed at age 21 years of age (1990) were unremarkable. Onset of similar symptoms in the son by age 7 years (2014) prompted further work up to consider a genetic etiology, specifically, erythromelaglia. Results: A novel mutation of SCN 9A, c.733C>G (p.Leu245Val) , the gene implicated in erythromelalgia, that segregates only with the symptomatic individuals of his family. The patient, son, brother and nephew, all of whom were symptomatic, carried the same mutation. The characteristic redness and swelling was notably absent in our patient and his son. Discussion: The absence of the hallmark erythema and edema of the Feet likely delayed diagnosis. This case illustrates the importance of considering erythromelalgia if there is a family history of similar symptoms even in the absence of typical features. Knowing the genetic diagnosis allows for prognostication, substantiates his diagnosis and improves overall outlook of his medical condition. Disclosure: Dr. Mankad has nothing to disclose. Dr. Konersman has nothing to disclose.
Jigar Mankad - One of the best experts on this subject based on the ideXlab platform.
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erythromelalgia a novel mutation in scn9a causing chronic neuropathic Burning Feet Syndrome without classic skin findings p5 025
Neurology, 2016Co-Authors: Jigar Mankad, Chamindra G KonersmanAbstract:Objective: To report a case of Erythromelalgia without classic skin findings. Background: Erythromelalgia, also known as red neuralgia is a condition caused by mutation of voltage-gated sodium channel (alpha subunit gene SCN9A ) . We report a case of erythromelalgia causing chronic neuropathic Burning without classic skin changes. Introduction: A 43 years old African American man with a history of supposed juvenile myopathy and lactic acidosis was referred to Neurology clinic for Burning Feet for further diagnostic evaluation. Patient had a history of generalized muscle aches and Burning in bilateral Feet since childhood. Although he wanted to become a football player, the inability to tolerate shoes for a long time precluded this ambition. Gradually worsening symptoms since age 21 years (1990) eventually prompted him to seek further medical care. Carbamazepine effectively controlled the Burning pain in the Feet. Methods: Electromyography/nerve conductions and muscle biopsy performed at age 21 years of age (1990) were unremarkable. Onset of similar symptoms in the son by age 7 years (2014) prompted further work up to consider a genetic etiology, specifically, erythromelaglia. Results: A novel mutation of SCN 9A, c.733C>G (p.Leu245Val) , the gene implicated in erythromelalgia, that segregates only with the symptomatic individuals of his family. The patient, son, brother and nephew, all of whom were symptomatic, carried the same mutation. The characteristic redness and swelling was notably absent in our patient and his son. Discussion: The absence of the hallmark erythema and edema of the Feet likely delayed diagnosis. This case illustrates the importance of considering erythromelalgia if there is a family history of similar symptoms even in the absence of typical features. Knowing the genetic diagnosis allows for prognostication, substantiates his diagnosis and improves overall outlook of his medical condition. Disclosure: Dr. Mankad has nothing to disclose. Dr. Konersman has nothing to disclose.
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erythromelalgia a novel mutation in scn9a causing chronic neuropathic Burning Feet Syndrome without classic skin findings p5 025
Neurology, 2016Co-Authors: Jigar Mankad, Chamindra G KonersmanAbstract:Objective: To report a case of Erythromelalgia without classic skin findings. Background: Erythromelalgia, also known as red neuralgia is a condition caused by mutation of voltage-gated sodium channel (alpha subunit gene SCN9A ) . We report a case of erythromelalgia causing chronic neuropathic Burning without classic skin changes. Introduction: A 43 years old African American man with a history of supposed juvenile myopathy and lactic acidosis was referred to Neurology clinic for Burning Feet for further diagnostic evaluation. Patient had a history of generalized muscle aches and Burning in bilateral Feet since childhood. Although he wanted to become a football player, the inability to tolerate shoes for a long time precluded this ambition. Gradually worsening symptoms since age 21 years (1990) eventually prompted him to seek further medical care. Carbamazepine effectively controlled the Burning pain in the Feet. Methods: Electromyography/nerve conductions and muscle biopsy performed at age 21 years of age (1990) were unremarkable. Onset of similar symptoms in the son by age 7 years (2014) prompted further work up to consider a genetic etiology, specifically, erythromelaglia. Results: A novel mutation of SCN 9A, c.733C>G (p.Leu245Val) , the gene implicated in erythromelalgia, that segregates only with the symptomatic individuals of his family. The patient, son, brother and nephew, all of whom were symptomatic, carried the same mutation. The characteristic redness and swelling was notably absent in our patient and his son. Discussion: The absence of the hallmark erythema and edema of the Feet likely delayed diagnosis. This case illustrates the importance of considering erythromelalgia if there is a family history of similar symptoms even in the absence of typical features. Knowing the genetic diagnosis allows for prognostication, substantiates his diagnosis and improves overall outlook of his medical condition. Disclosure: Dr. Mankad has nothing to disclose. Dr. Konersman has nothing to disclose.
Andrew S.c. Rice - One of the best experts on this subject based on the ideXlab platform.
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Flight Lieutenant Peach's observations on Burning Feet Syndrome in Far Eastern Prisoners of War 1942-45.
QJM : monthly journal of the Association of Physicians, 2017Co-Authors: N.t. Roocroft, Geoffrey Gill, Emily Mayhew, M. Parkes, A.w. Frankland, Didier Bouhassira, Andrew S.c. RiceAbstract:Introduction: ‘Burning Feet Syndrome’ affected up to one third of Far Eastern Prisoners of War in World War 2. Recently discovered medical records, produced by RAF Medical Officer Nowell Peach whilst in captivity, are the first to detail neurological examinations of patients with this condition. Methods: The 54 sets of case notes produced at the time were analysed using modern diagnostic criteria to determine if the Syndrome can be retrospectively classed as neuropathic pain. Results: With a history of severe malnutrition raising the possibility of a peripheral polyneuropathy, and a neuroanatomically plausible pain distribution, this analysis showed that Burning Feet Syndrome can now be described as a ‘possible’ neuropathic pain Syndrome. Conclusion: After 70 years, the data painstakingly gathered under the worst of circumstances have proved to be of interest and value in modern diagnostics of neuropathic pain.
Allan H. Ropper - One of the best experts on this subject based on the ideXlab platform.
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Non-length dependent small fibre neuropathy/ ganglionopathy. Commentary
Journal of Neurology Neurosurgery and Psychiatry, 2008Co-Authors: Haruki Koike, Kenneth C. Gorson, David N. Herrmann, Ramu Thiagarajan, Thomas H. Brannagan, Russell L. Chin, Laurence J. Kinsella, Sobue, Allan H. RopperAbstract:Objective: To describe the clinical and laboratory features of a painful non-length dependent, small fibre ganglionopathy (SFG). Background: The Syndrome of generalised SFG with early involvement of the face, trunk or proximal limbs is not well recognised and contrasts with the Burning Feet Syndrome of small fibre neuropathy (SFN) and classical large fibre features of sensory ganglionopathy. Methods: Retrospective case review including skin biopsies from four neuromuscular centres. Patients with pre-existing diseases associated with ganglionopathies were excluded. Results: 12 men and 11 women, with an average age of 50 years, were studied. Neuropathic pain developed over days in eight and over months in the other patients. The face (n = 12), scalp (n = 10), tongue (n = 6), trunk (n = 15) and acral extremities (n = 21) were involved. Symptoms began in the hands or face before the legs in 10. The pain was characterised as Burning (n = 22), prickling (n = 13), shooting (n = 13) or allodynic (n = 11). There was loss of pinprick sensation in affected regions in 19, with minimal or no loss of large fibre sensibility. Laboratory findings included abnormal glucose metabolism in six patients, Sjogren Syndrome in three and monoclonal gammopathy, sprue and hepatitis C infection in one each, with the remainder idiopathic. Sensory nerve action potentials were normal in 12 and were reduced in the hands but normal in the legs in six. Skin biopsy in 14 of 17 showed reduced nerve fibre density in the thigh equal to or more prominent than in the calf. Two of seven patients improved with immune therapies, 13 symptomatically with analgesic medications and the remainder had little improvement. Ten considered the pain disabling at the last follow-up (mean 2 years). Conclusion: The pattern of symmetric, non-length dependent neuropathic pain with face and trunk involvement suggests a selective disorder of the dorsal ganglia cells subserving small nerve fibres. It can be distinguished from distal SFN. A potential metabolic or immune process was detected in half of the cases and the disorder was often refractory to treatment.
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Non-length dependent small fibre neuropathy/ganglionopathy
Journal of neurology neurosurgery and psychiatry, 2007Co-Authors: Kenneth C. Gorson, David N. Herrmann, Ramu Thiagarajan, Thomas H. Brannagan, Russell L. Chin, Laurence J. Kinsella, Allan H. RopperAbstract:Objective: To describe the clinical and laboratory features of a painful non-length dependent, small fibre ganglionopathy (SFG). Background: The Syndrome of generalised SFG with early involvement of the face, trunk or proximal limbs is not well recognised and contrasts with the Burning Feet Syndrome of small fibre neuropathy (SFN) and classical large fibre features of sensory ganglionopathy. Methods: Retrospective case review including skin biopsies from four neuromuscular centres. Patients with pre-existing diseases associated with ganglionopathies were excluded. Results: 12 men and 11 women, with an average age of 50 years, were studied. Neuropathic pain developed over days in eight and over months in the other patients. The face (n = 12), scalp (n = 10), tongue (n = 6), trunk (n = 15) and acral extremities (n = 21) were involved. Symptoms began in the hands or face before the legs in 10. The pain was characterised as Burning (n = 22), prickling (n = 13), shooting (n = 13) or allodynic (n = 11). There was loss of pinprick sensation in affected regions in 19, with minimal or no loss of large fibre sensibility. Laboratory findings included abnormal glucose metabolism in six patients, Sjogren Syndrome in three and monoclonal gammopathy, sprue and hepatitis C infection in one each, with the remainder idiopathic. Sensory nerve action potentials were normal in 12 and were reduced in the hands but normal in the legs in six. Skin biopsy in 14 of 17 showed reduced nerve fibre density in the thigh equal to or more prominent than in the calf. Two of seven patients improved with immune therapies, 13 symptomatically with analgesic medications and the remainder had little improvement. Ten considered the pain disabling at the last follow-up (mean 2 years). Conclusion: The pattern of symmetric, non-length dependent neuropathic pain with face and trunk involvement suggests a selective disorder of the dorsal ganglia cells subserving small nerve fibres. It can be distinguished from distal SFN. A potential metabolic or immune process was detected in half of the cases and the disorder was often refractory to treatment.
N.t. Roocroft - One of the best experts on this subject based on the ideXlab platform.
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Flight Lieutenant Peach's observations on Burning Feet Syndrome in Far Eastern Prisoners of War 1942-45.
QJM : monthly journal of the Association of Physicians, 2017Co-Authors: N.t. Roocroft, Geoffrey Gill, Emily Mayhew, M. Parkes, A.w. Frankland, Didier Bouhassira, Andrew S.c. RiceAbstract:Introduction: ‘Burning Feet Syndrome’ affected up to one third of Far Eastern Prisoners of War in World War 2. Recently discovered medical records, produced by RAF Medical Officer Nowell Peach whilst in captivity, are the first to detail neurological examinations of patients with this condition. Methods: The 54 sets of case notes produced at the time were analysed using modern diagnostic criteria to determine if the Syndrome can be retrospectively classed as neuropathic pain. Results: With a history of severe malnutrition raising the possibility of a peripheral polyneuropathy, and a neuroanatomically plausible pain distribution, this analysis showed that Burning Feet Syndrome can now be described as a ‘possible’ neuropathic pain Syndrome. Conclusion: After 70 years, the data painstakingly gathered under the worst of circumstances have proved to be of interest and value in modern diagnostics of neuropathic pain.
