scholarly journals Finnish upper limb-onset distal myopathy

2020 ◽  
Author(s):  
Keyword(s):  
Upper Limb ◽  
Distal Myopathy ◽  
Limb Onset

G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

2012 ◽  
Vol 22 (9-10) ◽  
pp. 874-875
Author(s):  
V. Guergueltcheva ◽  
K. Peeters ◽  
J. Baets ◽  
C. Ceuterick-de Groote ◽  
J.J. Martin ◽  
...  
Keyword(s):  
Upper Limb ◽  
Distal Myopathy ◽  
Filamin C

scholarly journals Relative preservation of triceps over biceps strength in upper limb-onset ALS: the ‘split elbow’

2019 ◽  
Vol 90 (7) ◽  
pp. 730-733 ◽  
Author(s):  
Roaya Khalaf ◽  
Sarah Martin ◽  
Cathy Ellis ◽  
Rachel Burman ◽  
Jemeen Sreedharan ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Upper Limb ◽  
Selective Vulnerability ◽  
Relative Strength ◽  
Rank Test ◽  
Cortical Representation ◽  
Signed Rank Test ◽  
South East England ◽  
Lateral Sclerosis ◽  
Limb Onset

ObjectiveAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the motor system. The split hand sign in ALS refers to observed preferential weakness of the lateral hand muscles, which is unexplained. One possibility is larger cortical representation of the lateral hand compared with the medial. Biceps strength is usually preserved relative to triceps in neurological conditions, but biceps has a larger cortical representation and might be expected to show preferential weakness in ALS.MethodsUsing the South-East England Register for Amyotrophic Lateral Sclerosis, we performed a retrospective longitudinal cohort study and extracted the modified Medical Research Council (MRC) muscle strength score for biceps and triceps in patients with a diagnosis of upper limb-onset ALS in the 19-year period 1996–2015. A Wilcoxon signed-rank test was used to assess the relative strength of the muscles within the total sum of the upper limbs involved in the study.ResultsThere were 659 people with upper limb onset of weakness. In 215 there were insufficient data to perform the analysis, and a further 33 were excluded for other reasons, leaving 411 for analysis. Biceps was stronger than triceps in 87 limbs, and triceps was stronger than biceps in 258 limbs, with no difference seen in the remaining 477. Triceps strength scores (mean rank=186.1) were higher than ipsilateral biceps strength scores (mean rank=134.2), Z=−10.1, p<0.001 (two-tailed).ConclusionTriceps strength is relatively preserved compared with biceps in ALS. This is consistent with a broadly corticofugal hypothesis of selective vulnerability, in which susceptibility might be associated with larger cortical representation.

Lewis-sumner syndrome of pure upper-limb onset: Diagnostic, prognostic, and therapeutic features

2009 ◽  
Vol 39 (2) ◽  
pp. 206-220 ◽  
Author(s):  
Yusuf A. Rajabally ◽  
Govindsinh Chavada
Keyword(s):  
Upper Limb ◽  
Limb Onset

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset

2001 ◽  
Vol 22 (1) ◽  
pp. 95-96 ◽  
Author(s):  
E. M. Valente ◽  
A. R. Bentivoglio ◽  
E. Cassetta ◽  
P. H. Dixon ◽  
M. B. Davis ◽  
...  
Keyword(s):  
Upper Limb ◽  
Torsion Dystonia ◽  
Italian Family ◽  
Primary Torsion ◽  
Limb Onset ◽  
Chromosome 1P36 ◽  
Primary Torsion Dystonia

A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles

Neurology ◽  
2005 ◽  
Vol 64 (7) ◽  
pp. 1245-1254 ◽  
Author(s):  
D. R. Williams ◽  
K. Reardon ◽  
L. Roberts ◽  
X. Dennet ◽  
R. Duff ◽  
...  
Keyword(s):  
Upper Limb ◽  
Distal Myopathy ◽  
Limb Muscles

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset

2001 ◽  
Vol 49 (3) ◽  
pp. 362-366 ◽  
Author(s):  
Enza Maria Valente ◽  
Anna Rita Bentivoglio ◽  
Emanuele Cassetta ◽  
Peter H. Dixon ◽  
Mary B. Davis ◽  
...  
Keyword(s):  
Upper Limb ◽  
Torsion Dystonia ◽  
Italian Family ◽  
Primary Torsion ◽  
Limb Onset ◽  
Primary Torsion Dystonia

Upper limb onset of hereditary transthyretin amyloidosis is common in non‐endemic areas

2018 ◽  
Vol 26 (3) ◽  
pp. 497 ◽  
Author(s):  
M. Théaudin ◽  
P. Lozeron ◽  
V. Algalarrondo ◽  
C. Lacroix ◽  
C. Cauquil ◽  
...  
Keyword(s):  
Upper Limb ◽  
Transthyretin Amyloidosis ◽  
Endemic Areas ◽  
Hereditary Transthyretin Amyloidosis ◽  
Limb Onset

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Neurology ◽  
2011 ◽  
Vol 77 (24) ◽  
pp. 2105-2114 ◽  
Author(s):  
V. Guergueltcheva ◽  
K. Peeters ◽  
J. Baets ◽  
C. Ceuterick-de Groote ◽  
J. J. Martin ◽  
...  
Keyword(s):  
Upper Limb ◽  
Distal Myopathy ◽  
Filamin C
Sign in / Sign up

Export Citation Format

Share Document