Vulpian-Bernhardt Syndrome
The Vulpian-Bernhardt Syndrome (VBS), also called flail arm syndrome, brachial amyotrophic diplegia and man-in-barrel syndrome, is a rare motor neuron disease, often considered to be a phenotype or regional variant of amyotrophic lateral sclerose.[1] In the first twelve to eighteen months, only a progressive weakness of one or both arms is observed.[2] Within the spectrum of ALS, this subtype has a relatively longer survival time. Because of its distinct symptoms, it was suggested that VBS is a separate entity, different from ALS.
History[edit]
The disease was described first in 1886 by the french neurologist Alfred Vulpian and the german neuropathologist Martin Bernhardt as a progressive weakness of the upper limbs but no affectation of bulbar muscles.[3] It is a rare and atypical disease that can only be diagnosed after a significant time has elapsed.[4] A 2015 study found significant differences between ALS and VBS, most importantly the absence of signs of affectation of the upper motor neurons in patients with VBS. The study suggested that VBS is a different entity from ALS. [5]
Symptoms[edit]
A study of 1,188 ALS cases in London between 1993 and 2007, and 432 en Melbourne classified cases as SVB when in the first 12 months only a weakness of upper limbs was reported.[6]Based on this criterium, 135 cases or 11% were classified as Vulpian-Bernhardt. At later stages, weakening of lower limbs and other ALS symptoms were observed. 16 per cent of these SVB cases survived more than ten years, the highest of all variants of ALS in the study.
Cases[edit]
One of the few cases of SVB that has spoken in public about the disease is Sonia Bustamante Dominguez, a Mexican woman who showed the first symptoms in 2012 and was diagnosed in 2016. In 2024 she described her body as a jail.[7]
References[edit]
- ^ Jawdat, Omar; Statland, Jeffrey M.; Barohn, Richard J.; Katz, Jonathan; Dimachkie, Mazen M. (November 2015). "ALS Regional Variants (Brachial Amyotrophic Diplpegia, Leg Amyotrophic Diplegia, and Isolated Bulbar ALS)". Neurologic Clinics. 33 (4): 775–785. doi:10.1016/j.ncl.2015.07.003. ISSN 0733-8619. PMC 4629514. PMID 26515621.
- ^ Masrori, P.; Van Damme, P. (October 2010). "Amyotrophic lateral sclerosis: a clinical review". European Journal of Neurology. 27 (10): 1918–1929. doi:10.1111/ene.14393. ISSN 1351-5101. PMC 7540334. PMID 32526057.
- ^ III, Harry LeVine (2019-10-11). What You Need to Know about ALS. Bloomsbury Publishing USA. ISBN 979-8-216-16430-2. Retrieved 2024-06-27.
- ^ López Hernández, Juan Carlos; Bazán Rodríguez, Lisette; Pérez Torres, Teresa; Delgado García, Guillermo; García Trejo, Sofía; Cervantes Uribe, Roberto; Jorge de Saráchaga, Adib; León Manríquez, Elizabeth; Vargas Cañas, Edwin Steven (2021). "Síndrome de Vulpian-Bernhardt. Frecuencia, características clínicas y electrofisiológicas en un centro de atención de tercer nivel en México". Revista de Neurología (in Spanish). 72 (3): 85–91. doi:10.33588/rn.7203.2020126. ISSN 0210-0010. PMID 33506486. Retrieved 2024-06-27.
- ^ Yang, Hecheng; Liu, Mingsheng; Li, Xiaoguang; Cui, Bo; Fang, Jia; Cui, Liying (2015-06-09). "Neurophysiological Differences between Flail Arm Syndrome and Amyotrophic Lateral Sclerosis". PLOS ONE. 10 (6): e0127601.
- ^ Wijesekera, L C.; Mathers, S; Talman, P; Galtrey, C; Parkinson, M H.; Ganesalingam, J; Willey, E; Ampong, M A.; Ellis, C M. (2009-03-24). "Natural history and clinical features of the flail arm and flail leg ALS variants". Neurology. 72 (12): 1087–1094. doi:10.1212/01.wnl.0000345041.83406.a2. ISSN 0028-3878. PMC 2821838. PMID 19307543.
- ^ Sonia Enfrenta Cárcel en su Cuerpo con Síndrome Vulpian Bernhardt | N+ (in Mexican Spanish), 2024-06-11, retrieved 2024-06-27