scholarly journals SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report

2019 ◽  
Vol 9 ◽  
Author(s):  
Muhammad Younus ◽  
Farooq Ahmad ◽  
Erum Malik ◽  
Muhammad Bilal ◽  
Mehran Kausar ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Consanguineous Family ◽  
Homozygous Nonsense Mutation

scholarly journals Homozygous nonsense mutation inSGCAis a common cause of limb-girdle muscular dystrophy in Assiut, Egypt

2016 ◽  
Vol 54 (4) ◽  
pp. 690-695 ◽  
Author(s):  
Hemakumar M. Reddy ◽  
Sherifa A. Hamed ◽  
Monkol Lek ◽  
Satomi Mitsuhashi ◽  
Elicia Estrella ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Common Cause ◽  
Homozygous Nonsense Mutation

scholarly journals Limb girdle muscular dystrophy: a case report initially presenting to an outpatient musculoskeletal physiotherapy clinic with spinal pain and functional weakness

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Simon O’Shea ◽  
Thomas M. Jenkins
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Spinal Pain ◽  
Limb Girdle Muscular Dystrophy ◽  
Case Presentation ◽  
Heterogenous Group ◽  
Muscular Disorders ◽  
Strengthening Exercises ◽  
Functional Movements ◽  
Spinal Muscles

Abstract Background The term limb girdle muscular dystrophy (LGMD) describes a group of genetic muscular disorders that require specialist input from neurologically trained clinicians. The plethora of potential symptoms of this heterogenous group can result in patients presenting initially to musculoskeletal (MSK) physiotherapists. Case presentation The following case report highlights the presentation of a 21 year old female attending with 2 years of spinal pain and an unusual pattern of weakness, namely when rising from a sitting position the hips were abducted and then internally rotated. Formal testing in clinic revealed no isolated weakness initially despite the odd functional movements. There were no neural limb pains and no upper or lower motor neuron concerns on testing. There were no other health concerns. Some gains were reported with recent physiotherapy strengthening exercises and these were persisted with but proved ineffective overall. The Biopsychosocial model was used judiciously to explore alternative pathologies and led to appropriate investigations, onward referral, diagnosis and appropriate management of LGMD. Extensive atrophy of the spinal muscles was evident on imaging which was not particularly identified within the physiotherapy testing process in the earlier stages. Creatine kinase levels were also significantly raised. Conclusions Being mindful of this novel presentation in musculoskeletal clinics may well aid future, similar cases to be identified. The case highlights the importance of looking at the functional impact as opposed to traditional testing methods especially in the early stages of such conditions.

Case Report: Left Ventricular Apical Hypertrophy in Progressive Limb-Girdle Muscular Dystrophy

1993 ◽  
Vol 305 (3) ◽  
pp. 166-170 ◽  
Author(s):  
Satoshi Terashima ◽  
Shuji Katoh ◽  
Hirotaka Tatsukawa ◽  
Morihiko Kondoh ◽  
Yoshifumi Nakahara ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Left Ventricular ◽  
Limb Girdle Muscular Dystrophy ◽  
Apical Hypertrophy

Case Report: Marked Cardiac Involvement in Limb-Girdle Muscular Dystrophy

1990 ◽  
Vol 299 (6) ◽  
pp. 411-414 ◽  
Author(s):  
Seinosuke Kawashima ◽  
Masahiro Ueno ◽  
Tomohiro Kondo ◽  
Juro Yamamoto ◽  
Tadaaki Iwasaki
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Cardiac Involvement ◽  
Limb Girdle Muscular Dystrophy

scholarly journals Limb-girdle muscular dystrophy type 2M with adult-onset loss of ambulation. A case report

2010 ◽  
Vol 50 (9) ◽  
pp. 661-665 ◽  
Author(s):  
Yoshiyuki Kondo ◽  
Madoka Mori-Yoshimura ◽  
Yukiko K. Hayashi ◽  
Yasushi Oya ◽  
Noriko Satoh ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Adult Onset

scholarly journals LIMB-GIRDLE MUSCULAR DYSTROPHY AS A DIFFERENTIAL DIAGNOSIS IN PATIENT PRESENTING WITH WEAKNESS AND ELEVATION OF MUSCULAR ENZYMES OF CHRONIC EVOLUTION: A CASE REPORT

2019 ◽  
Author(s):  
FLÁVIO RIBEIRO PEREIRA ◽  
JANNINE FARIAS BELLINI LEITE ◽  
ISABELLA MATIAS RIBEIRO ◽  
FERNANDA MARVILA FAGUNDES LAMARCA ◽  
NATÁLIA MIRANDA GAVA ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy
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