scholarly journals Hypertrophic Cardiomyopathy and Arrhythmias as Phenotype Spectrum of Emery Dreifuss Muscular Dystrophy: First Case Report in Bahrain

2021 ◽  
Vol 33 (4) ◽  
pp. 24-28
Author(s):  
Mary Lynch ◽  
Vinayak Vadgaonkar ◽  
Rajesh Jayakumar Jayakumar ◽  
Cristina Skrypnyk
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Muscular Dystrophy ◽  
Clinical Symptoms ◽  
Limb Girdle Muscular Dystrophy ◽  
Inherited Disorders ◽  
Genetic Studies ◽  
Early Presentation ◽  
Phenotypic Spectrum ◽  
First Case ◽  
Slow Progression

Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive wasting and weakness of the skeletal muscles. The clinical spectrum ranges from early presentation with severe clinical features in childhood to onset in adulthood with less severe clinical symptoms and slow progression. This frequently raises difficulties in diagnosis. The predominant features may be cardiac, and this may lead to a complex diagnosis. Emery Driefuss Muscular dystrophy (EDMD) is a rare form of limb girdle muscular dystrophy. The prevalence is less than 1:100,000 individuals. The condition may be associated with significant muscular cardiac abnormalities which is responsible for mortality in these patients. The authors describe a case of hypertrophic cardiomyopathy in which limb girdle muscular dystrophy was suspected and subsequently confirmed by genetic studies as part of the phenotypic spectrum of Xlinked EDMD. This is the first diagnosed case of EDMD in Bahrain.

scholarly journals Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I

2013 ◽  
Vol 40 (6) ◽  
pp. 875-877
Author(s):  
H.J. McMillan ◽  
J. Michaud
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Clinical Symptoms ◽  
Limb Girdle Muscular Dystrophy ◽  
Muscle Fibres ◽  
Genetic Sequencing ◽  
Clinical Onset ◽  
Inflammatory Infiltrates ◽  
Inflammatory Changes ◽  
Post Infectious

Muscular dystrophies can show clinical and muscle biopsy features that mimic or overlap the changes seen in a primary myositis, particularly in the early stages of disease or when the clinical onset is abrupt. We present a child who was eventually diagnosed with limb girdle muscular dystrophy type 2I (LGMD2i). she presented with mild hip-girdle weakness and post-infectious myalgia. although her clinical symptoms favoured a muscular dystrophy, her muscle biopsy showed inflammatory infiltrates within muscle fibres and around blood vessels that were more typical of juvenile polymyositis. additional immunocytochemical antibody tests and genetic sequencing were key to obtaining an accurate diagnosis and avoiding immunosuppressant therapy.

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 Limb-Girdle Muscular Dystrophy Type 2C: Case Report

2020 ◽  
pp. 1-5
Author(s):  
A. Radi ◽  
Ouajid el. Bakkali ◽  
M. Kmari ◽  
A. Ourrai ◽  
A. Hassani ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Pathogenic Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Positive Sign ◽  
Muscle Membrane ◽  
Inherited Disorders ◽  
Skeletal Muscle Wasting ◽  
The Family ◽  
Late Expression ◽  
Difficulty Walking

Limb-Girdle muscular dystrophy (LGMD) is a group of inherited disorders that lead to muscle weakness and skeletal muscle wasting involving the muscles around the hips and shoulders. This can cause a gait disturbance, difficulty running or even a complete loss of the ability to walk. The appearance of the disorder, the course and the muscles affected are variable between the different subtypes of the disease. Typically, patients with type 2C Limb-Girdle dystrophy (LGMD2C) start having symptoms early in infancy and lose their ability to walk around the age of 12. Others have less symptomatology and have late expression in adulthood. This disorder can affect the heart muscle in some patients. They can also have osteoarticular and vertebral deformations. The prognosis depends on the muscles often affected by respiratory failure.LGMD2C is caused by a pathogenic mutation in the SGCG gene. We report the case of a 13-year-old child, with a notion of femoral fracture at the age of 5 years and first degree consanguinity in the parents, no similar case in the family, and who presents since 3 years difficulty walking Clinical examination: walking, positive sign of Gowers, scapula alta, enlarged calves. On the biological level: CPK 6380, LDH 482, PAL 219, ASAT 68, ALAT 103. The electromyogram shows a slowing of the motor conduction speed of the external popliteal sciatic nerve with a slight loss of amplitude. Muscle biopsy objective a discreet dystrophic formula with a total absence of expression of gamma sarcoglycans and proteins of the muscle membrane. Gamma glycanopathy is genetically confirmed by the mutation of the δ-SG gene. A cardiac ultrasound was without abnormality.

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India

2021 ◽  
Vol 8 (1) ◽  
pp. 125-136
Author(s):  
Pankaj Pathak ◽  
Mehar Chand Sharma ◽  
Pankaj Jha ◽  
Chitra Sarkar ◽  
Mohammed Faruq ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Genetic Diagnosis ◽  
European Population ◽  
Significant Loss ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3 ◽  
Recessive Type ◽  
Slow Progression ◽  
Significant Burden ◽  
Progression Of Disease

Background: Limb girdle muscular dystrophy recessive type 1 (LGMDR1, Previously LGMD2A) is characterized by inactivating mutations in CAPN3. Despite the significant burden of muscular dystrophy in India, and particularly of LGMDR1, its genetic characterization and possible phenotypic manifestations are yet unidentified. Material and Methods: We performed bidirectional CAPN3 sequencing in 95 LGMDR1 patient samples characterized by calpain-3 protein analysis, and these findings were correlated with clinical, biochemical and histopathological features. Results: We identified 84 (88.4%) cases of LGMDR1 harboring 103 CAPN3 mutations (71 novel and 32 known). At least two mutant alleles were identified in 79 (94.2%) of patients. Notably, 76% exonic variations were enriched in nine CAPN3 exons and overall, 41 variations (40%) correspond to only eight exonic and intronic mutations. Patients with two nonsense/out of frame/splice-site mutations showed significant loss of calpain-3 protein as compared to those with two missense/inframe mutations (P = 0.04). We observed a slow progression of disease and less severity in our patients compared to European population. Rarely, presenting clinical features were atypical, and mimicked other muscle diseases like FSHMD, distal myopathy and metabolic myopathies. Conclusion: This is first systematic study to characterize the genetic framework of LGMDR1 in the Indian population. Preliminary calpain-3 immunoblot screening serves well to direct genetic testing. Our findings prioritized nine CAPN3 exons for LGMDR1 diagnosis in our population; therefore, a targeted-sequencing panel of nine exons could serve well for genetic diagnosis, carrier testing, counseling and clinical trial feasibility study in LGMDR1 patients in India.

Early presentation of X-linked Emery–Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

1998 ◽  
Vol 8 (2) ◽  
pp. 72-76 ◽  
Author(s):  
Francesco Muntoni ◽  
Ewa J Lichtarowicz-Krynska ◽  
Caroline A Sewry ◽  
Sushila Manilal ◽  
Dominique Recan ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Early Presentation

TBE in Lithuania

2020 ◽  
Keyword(s):  
Viral Encephalitis ◽  
Clinical Symptoms ◽  
Shoulder Girdle ◽  
Muscle Paralysis ◽  
First Case ◽  
Tick Borne Encephalitis ◽  
Autopsy Data ◽  
Forest Worker ◽  
Girdle Muscle ◽  
Shoulder Girdle Muscle

The first case of tick-borne encephalitis (TBE) in Lithuania, diagnosed by clinical and epidemiologic criteria only, was reported in 1953. A forest worker became ill with the disease in April after a tick bite, had a typical clinical presentation with shoulder girdle muscle paralysis and bulbar syndrome, and died after 12 days from the start of clinical symptoms. Autopsy data were compatible with viral encephalitis.1 Serological diagnosis of TBE in Lithuania was started in 1970.2

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