Charcot-Marie-Tooth Disease Complicating Type 2 Diabetes

Win, Htet Htet Ne; Davenport, Colin; Delaney, S; Kelly, Mary; Smith, Diarmuid

doi:10.7547/1010349

Cited by 6 publications

(5 citation statements)

References 11 publications

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“…Very few cases of an ulcer caused by CMT disease have been reported. 2,3 The patient reported in this study suffered from CMT disease and type 2 diabetes concurrently. Therefore, limb numbness and wound healing difficulties occurred together.…”

mentioning

confidence: 77%

“…The typical signs and family history are the most characteristic differences. 2 Diabetic mellitus would lead to a neuropathy called diabetic neuropathy, which is a neurological complication of diabetes. A typical example is a mitochondrial phenotype, which causes a distal dying-back neurodegenerative process and results in abnormal sensory neurons.…”

Section: Discussionmentioning

confidence: 99%

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A Chronic Leg Ulcer Presenting With Charcot–Marie–Tooth Disease and Type 2 Diabetes

Ren

You

Han

2013

The International Journal of Lower Extremity Wounds

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Charcot-Marie-Tooth (CMT) disease is characterized by hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing loss, moderate developmental delay, and gait disturbance. CMT presenting with type 2 diabetes and an ulcer has not been reported. This article reports a man who presented with the symptoms mentioned above and also with a leg ulcer and type 2 diabetes. He was diagnosed with CMT disease based on family history and genetic testing. A skin defect in the left leg had manifested for more than 1 year, and results of initial fasting plasma glucose revealed type 2 diabetes. The evolution of these manifestations, coupled with a slowly progressive weakness, numbness, muscular wasting, and sensory impairment, strongly suggested the co-occurrence of 3 different diseases in the same individual.

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mentioning

confidence: 77%

Section: Discussionmentioning

confidence: 99%

A Chronic Leg Ulcer Presenting With Charcot–Marie–Tooth Disease and Type 2 Diabetes

Ren

You

Han

2013

The International Journal of Lower Extremity Wounds

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“…Diabetes mellitus does not exacerbate the neuropathy caused by CMT1A directly. Previous animal studies identified that diabetes could result in transmission abnormalities of the neuromuscular junction 9 , which might be a potential mechanism of diabetes mellitus exacerbating CMT1A. It could be possible that diabetes mellitus aggravates pre‐existing demyelinating Schwann cells and axonal structure abnormal interaction, and is associated with regeneration disorder of axons injuries.…”

Section: Discussionmentioning

confidence: 99%

Diabetes coexistent with Charcot–Marie–Tooth disease presenting as a recurrent foot ulcer misdiagnosed as diabetic foot: A case report

Yan

Chen

Yao

et al. 2021

J of Diabetes Invest

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Both diabetes mellitus and Charcot–Marie–Tooth disease (CMT) can lead to severe peripheral neuropathy. The differential diagnosis of peripheral neuropathy is difficult due to the similar clinical features. There are still some clues, such as unusual muscle atrophy, unmatched severity of peripheral neurogenic damage with nephropathy or retinopathy, which could alert clinicians to make differential diagnosis. Although diabetes mellitus is rarely concurrent with CMT, it will exacerbate clinical disorders in patients with CMT. To date, there is no specific medicine for CMT treatment. Offloading devices and desirable comprehensive management of diabetes mellitus might be beneficial to avoid plantar ulcer recurrence and anti‐progression of CMT.

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“…It is unclear whether the lack of association is relevant to the embryonic lethality of DNM2 disruption, isoform redundancy, or lower minor allele frequency (MAF) of variants in GWAS analysis. Dynamin mutations have been identified in Charcot-Marie-Tooth peripheral neuropathy (CMT) and autosomal dominant centronuclear myopathy (107), and the copresence of T2D with CMT has been reported in some patients (108)(109)(110), raising the question whether dynamin dysfunction is the shared etiology for both diseases in these cases. Hyperglycemia and glucose intolerance in the TKO mice (Figs.…”

Section: Discussionmentioning

confidence: 99%

Dynamin deficiency causes insulin secretion failure and hyperglycemia

Fan

Hara

et al. 2021

Proc. Natl. Acad. Sci. U.S.A.

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Pancreatic β cells operate with a high rate of membrane recycling for insulin secretion, yet endocytosis in these cells is not fully understood. We investigate this process in mature mouse β cells by genetically deleting dynamin GTPase, the membrane fission machinery essential for clathrin-mediated endocytosis. Unexpectedly, the mice lacking all three dynamin genes (DNM1, DNM2, DNM3) in their β cells are viable, and their β cells still contain numerous insulin granules. Endocytosis in these β cells is severely impaired, resulting in abnormal endocytic intermediates on the plasma membrane. Although insulin granules are abundant, their release upon glucose stimulation is blunted in both the first and second phases, leading to hyperglycemia and glucose intolerance in mice. Dynamin triple deletion impairs insulin granule exocytosis and decreases intracellular Ca2+ responses and granule docking. The docking defect is correlated with reduced expression of Munc13-1 and RIM1 and reorganization of cortical F-actin in β cells. Collectively, these findings uncover the role of dynamin in dense-core vesicle endocytosis and secretory capacity. Insulin secretion deficiency in the absence of dynamin-mediated endocytosis highlights the risk of impaired membrane trafficking in endocrine failure and diabetes pathogenesis.

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Charcot-Marie-Tooth Disease Complicating Type 2 Diabetes

Cited by 6 publications

References 11 publications

A Chronic Leg Ulcer Presenting With Charcot–Marie–Tooth Disease and Type 2 Diabetes

A Chronic Leg Ulcer Presenting With Charcot–Marie–Tooth Disease and Type 2 Diabetes

Diabetes coexistent with Charcot–Marie–Tooth disease presenting as a recurrent foot ulcer misdiagnosed as diabetic foot: A case report

Dynamin deficiency causes insulin secretion failure and hyperglycemia

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