Axial muscle involvement in patients with Limb girdle muscular dystrophy type R9

2022 ◽  
Author(s):  
Karoline Lolk Revsbech ◽  
Karen Rudolf ◽  
Aisha Munawar Sheikh ◽  
Tahmina Khawajazada ◽  
Josefine Stricker Borch ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Muscle Involvement ◽  
Axial Muscle

scholarly journals Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

2014 ◽  
Vol 72 (9) ◽  
pp. 721-734 ◽  
Author(s):  
Ana Cotta ◽  
Elmano Carvalho ◽  
Antonio Lopes da-Cunha-Júnior ◽  
Júlia Filardi Paim ◽  
Monica M. Navarro ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Neuromuscular Disorders ◽  
Limb Girdle Muscular Dystrophy ◽  
Muscular Dystrophies ◽  
Muscle Involvement ◽  
Respiratory Management ◽  
Diagnostic Flowchart ◽  
And Function

Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.

scholarly journals Limb girdle muscular dystrophy due to mutations in POMT2

2017 ◽  
Vol 89 (5) ◽  
pp. 506-512 ◽  
Author(s):  
Sofie Thurø Østergaard ◽  
Katherine Johnson ◽  
Tanya Stojkovic ◽  
Thomas Krag ◽  
Willem De Ridder ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Muscular Dystrophy ◽  
Muscle Strength ◽  
Congenital Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Strength Testing ◽  
Clinical Trial Registration ◽  
Muscle Involvement ◽  
Presenting Symptoms ◽  
Knee Flexors

BackgroundMutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four cases have been reported so far.ClinicalTrials.gov ID: NCT02759302MethodsWe report 12 new cases of LGMD2N, aged 18–63 years. Muscle involvement was assessed by MRI, muscle strength testing and muscle biopsy analysis. Other clinical features were also recorded.ResultsPresenting symptoms were difficulties in walking, pain during exercise, delayed motor milestones and learning disabilities at school. All had some degree of cognitive impairment. Brain MRIs were abnormal in 3 of 10 patients, showing ventricular enlargement in one, periventricular hyperintensities in another and frontal atrophy of the left hemisphere in a third patient. Most affected muscle groups were hip and knee flexors and extensors on strength testing. On MRI, most affected muscles were hamstrings followed by paraspinal and gluteal muscles. The 12 patients in our cohort carried 11 alleles with known mutations, whereas 11 novel mutations accounted for the remaining 13 alleles.ConclusionWe describe the first cohort of patients with LGMD2N and show that unlike other LGMD types, all patients had cognitive impairment. Primary muscle involvement was found in hamstring, paraspinal and gluteal muscles on MRI, which correlated well with reduced muscle strength in hip and knee flexors and extensors. The study expands the mutational spectrum for LGMD2N, with the description of 11 novel POMT2 mutations in the association with LGMD2N.Clinical trial registrationNCT02759302.

scholarly journals Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation

2017 ◽  
Vol 56 (17) ◽  
pp. 2347-2351 ◽  
Author(s):  
Yuta Kojima ◽  
Yu-ichi Noto ◽  
Daiki Takewaki ◽  
Naoki Tokuda ◽  
Kensuke Shiga ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Lower Limb ◽  
Limb Girdle Muscular Dystrophy ◽  
Lower Limb Muscle ◽  
Limb Muscle ◽  
Muscle Involvement

scholarly journals A Novel Mutation in a Large French-Canadian Family with LGMD1B

2008 ◽  
Vol 35 (3) ◽  
pp. 331-334 ◽  
Author(s):  
Nicolas Chrestian ◽  
Paul N. Valdmanis ◽  
Najmeddine Echahidi ◽  
Denis Brunet ◽  
Jean-Pierre Bouchard ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Pacemaker Implantation ◽  
Limb Girdle Muscular Dystrophy ◽  
Cardiac Conduction ◽  
Cardiac Complications ◽  
French Canadian ◽  
New Mutation ◽  
Muscle Involvement ◽  
Phenotypic Spectrum

ABSTRACTBackground:Limb girdle muscular dystrophy type 1B is an autosomal dominant disease characterized by late onset proximal muscle involvement associated with cardiac complications such as atrioventricular conduction blocks, dilated cardiomyopathy, and sudden death.Objective:Define the full phenotypic spectrum of a new mutation in the LMNA gene causing limb girdle muscular dystrophy type 1B.Methods:We identified a large French Canadian family with the LGMD 1B phenotype and a cardiac conduction disease phenotype that carried a new mutation in the LMNA gene and sought to define its full phenotypic spectrum by performing complete neurological and cardiac evaluations, muscle biopsy, RNA and DNA studies.Results:The proband and 12 living at risk relatives were tested. In total, we identified seven carriers of a new (IVS9-3C>G) LMNA gene mutation. Of the three symptomatic patients, all had cardiac involvement, but only two presented proximal limb weakness. The one available muscle biopsy demonstrated a normally expressed lamin A/C protein, localized at the nuclear envelope. RNA study revealed a loss of exon 10 transcription caused by the IVS9-3C to G splicing mutation.Conclusions:We have identified a new mutations in the LMNA gene in a French-Canadian family. This diagnosis has important implications for affected patients and their siblings since they may eventually require pacemaker implantation.

scholarly journals Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)

2016 ◽  
Vol 2 (6) ◽  
pp. e112 ◽  
Author(s):  
S.T. Oestergaard ◽  
T. Stojkovic ◽  
J.R. Dahlqvist ◽  
C. Bouchet-Seraphin ◽  
J. Nectoux ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Muscle Involvement
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