Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease

We report a 14 years-old young man with walked unstably, bilateral strephenopodia, severe alopecia and paroxysmal bilateral upper limbs tremor without obvious muscle atrophy. Diagnostic whole-exome sequencing revealed a hemizygote missense mutation c.278 T > A in exon 2 of the GJB1 gene, with lysine at position 93 of the mature protein (p.M93K). This is the first CMT case with alopecia areata reported in the world.
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research

Related Links:

Publication date: Available online 6 February 2020Source: The Journal of Allergy and Clinical Immunology: In PracticeAuthor(s): Khalaf Kridin, Yael Renert-Yuval, Emma Guttman-Yassky, Arnon D. CohenBackgroundEvidence of TH1/IFN-γ overactivation as a major pathogenic driver somewhat conflicts with data supporting robust allergic background in patients with alopecia areata (AA). Previous investigations of immunological dysregulations show that both TH1- and TH2-related markers are overexpressed in AA. Clinical correlations in large populations may shed light on the immune pathways most likely to result in the clinical p...
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research
We’ve all been there. You awaken in the morning and one of your hands is completely numb. It feels dead, heavy, and simply won’t work. Perhaps there’s some tingling as well. Or, you arise from a long dinner or movie and one of your legs feels that way. Then over a few minutes — maybe you shook your hands, stamped your foot — everything goes back to normal. Until the next time. The first time this happened, it might have been worrisome. Now that you know it’s temporary and happens to everyone, it may not bother you. But did you ever wonder why in the world this happens? Read on! When the ...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Health Healthy Aging Neurological conditions Source Type: blogs
In conclusion, 10 kHz SCS treatment resulted in significant pain relief in all the patients, decreased reliance on pain medication and improved lower limb sensory function in majority of patients. PMID: 32073352 [PubMed - as supplied by publisher]
Source: Postgraduate Medicine - Category: Internal Medicine Tags: Postgrad Med Source Type: research
Conclusions: The FDLPPPS may be underreported and should be considered in all cases of LPP recalcitrant to treatment. Dermatologists and dermatopathologists should recognize this phenotypic spectrum to guide optimal clinical management consisting of immunomodulatory and anti-inflammatory agents along with systemic antimicrobials.
Source: The American Journal of Dermatopathology - Category: Pathology Tags: Original Study Source Type: research
No abstract available
Source: The American Journal of Dermatopathology - Category: Pathology Tags: Letters to the Editor Source Type: research
AbstractBackground/aimDiabetic peripheral neuropathy (DPN) is the most common complication of diabetes mellitus (DM). The Michigan Neuropathy Screening Instrument (MNSI) is a simple, brief, and useful screening tool that was designed to assess DPN. The aim of this study was to develop a Turkish version of the MNSI and assess its reliability and validity.Materials and methodsEighty-three patients with DM who were divided into two groups according the results of nerve conduction studies (NCS) as having DPN or without DPN were enrolled in this cross-sectional study. The Toronto clinical scoring system, pain detect questionnai...
Source: Diabetology International - Category: Endocrinology Source Type: research
hi all, Does anyone have experience with prp for hair loss? If so I’d love to learn about protocols you use. Looking to supplement my practice and offer prp for hair loss / balding. Thank you
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: PM&R Source Type: forums
Conclusion: In our study, we found PRP with topical minoxidil is more effective than PRP alone and topical minoxidil alone.
Source: Indian Journal of Dermatology, Venereology and Leprology - Category: Dermatology Authors: Source Type: research
ConclusionThis review identified that a number of self-management strategies that were initiated by patients, including heat, exercise, meditation, and transcutaneous electrical nerve stimulation (TENS) therapy, may reduce self-reported PN symptoms. As the available studies were of low quality, these strategies warrant further investigation with more homogeneous samples, using more rigorously designed trials and larger samples.Implications for Cancer SurvivorsPatients experiencing PN may find a range of self-initiated strategies beneficial in reducing PN symptoms and improving quality of life. However, because of the low q...
Source: Journal of Cancer Survivorship - Category: Cancer & Oncology Source Type: research
Authors: York K, Meah N, Bhoyrul B, Sinclair R Abstract Introduction: Androgenetic alopecia is a common hair loss disorder affecting up to 80% of males by the age of 80. It is characterized by androgen related progressive thinning of hair in a defined pattern. It results in diminished self-esteem, reduced confidence and distress in affected men, irrespective of age or stage of baldness. An effective treatment for hair baldness is needed.Areas covered: In androgenetic alopecia, hair follicles undergo progressive miniaturization. Genetic factors and androgens are key role-players in disease pathogenesis. Herein the a...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
More News: Alopecia | Alopecia Areata | Brain | Charcot-Marie-Tooth Disease | Genetics | Neurology | Neuroscience | Peripheral Neuropathy