The Limb Girdle Muscular Dystrophies

Mp, Wicklund; Mendell,

doi:10.1097/00131402-200309000-00003

Cited by 9 publications

(7 citation statements)

References 118 publications

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“…Pronounced pelvic-girdle and trunk muscle weakness may occur, which may increase the need for obstetric intervention. 2,9 Severe cases of LGMD can be associated with respiratory compromise further exacerbated by the physiological demands of pregnancy. Respiratory compromise secondary to severe diaphragmatic involvement may cause hypoventilation.…”

Section: Discussionmentioning

confidence: 99%

Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy

Black

Said

2010

Obstet Med

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Summary:The limb-girdle muscular dystrophies (LGMDs) are a group of genetically determined disorders of skeletal muscle, predominantly affecting the pelvic and shoulder-girdle musculature. The clinical course is variable but steadily progressive. Type 2ALGMD is the most frequent form, accounting for approximately 30% of identified cases. There are few reports of patients with Type 2A LGMD undergoing pregnancy and delivery. This case outlines a successful vaginal delivery in a woman with this condition.Keywords: high-risk pregnancy, maternal -fetal medicine, neurology, perinatal medicine CASE REPORTThe patient, a 24-year-old primigravida, presented for antenatal care at The Royal Women's Hospital, Melbourne at 26 weeks gestation. Her neurological diagnosis was established at the age of 17 years on the basis of a muscle biopsy, which showed diagnostic features of myopathy. Further immunohistochemical studies using Western immunoblotting were arranged and proved consistent with Type 2A limb-girdle muscular dystrophy (LGMD). Her parents were consanguinous and her sister, aged 15 years, was experiencing similar symptoms at that time but had not undergone formal investigation.At the time of diagnosis the patient underwent calf tendon releases, with no subsequent neurological review. Prior to pregnancy she was unable to walk without assistance and relied on family members to support her while she walked. This included assistance to rise from the seated or lying position. She was unable to run or climb stairs. Her routine booking blood tests were essentially normal except for an elevated glucose tolerance test, consistent with gestational diabetes, which responded to dietary measures. Her body mass index at booking was 26 kg/m 2 . She underwent neurological review at 32 weeks gestation. Examination revealed shoulder-girdle weakness with inability to lift her arms above her head, symmetrical lower limb weakness, calf hypertrophy and wasted quadriceps and hamstring muscles, with power 2/5 in the limb girdles. Echocardiogram, electrocardiograph and pulmonary function tests were performed and were essentially normal. A caesarean section for delivery was initially recommended by the neurology team on the basis of her poor motor function and concerns that this may preclude a vaginal delivery. However, in conjunction with the patient's wishes, a vaginal delivery was proposed, with assistance in the second stage of labour if required.Serial ultrasounds in the third trimester showed appropriate fetal growth. Her antenatal course was complicated by a fall at 34 weeks gestation resulting in a right medial malleolar fracture. This necessitated the use of a wheelchair for mobility, and subcutaneous heparin was commenced for deep venous thrombosis prophylaxis.At 39 weeks gestation, induction of labour was recommended due to unstable blood sugars and numerous social and logistical issues, including difficulty for carers to arrange transport to the hospital for appointments. Artificial rupture of membranes was performed and an oxytocin...

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Section: Discussionmentioning

confidence: 99%

Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy

Black

Said

2010

Obstet Med

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“…Exon deletions of EPCAM (MIM# 185535) gene, neighboring to MSH2 , leads to the epigenetic silencing of MSH2 causing Lynch syndrome, which suggested a digenic mode of inheritance. Another such disease type example with multigenic inheritance is that of the NMDs that share clinical, genetic, and pathological characteristics (Angelini et al., ; Godfrey et al., ; Laing, ; Maggi et al., ; Wicklund & Mendell, ). Several research groups successfully discovered digenic inheritance in different NMDs (Lemmers et al., ; Muntoni et al., ; Nadeau et al., ; Trabelsi et al., ) indicating a more complex nature of disease presentation and progression.…”

Section: From Mendelian Genetics To the New Era Of Genetics‐ Understamentioning

confidence: 99%

Inferring the effect of genomic variation in the new era of genomics

Chakravorty

Hegde

2018

Human Mutation

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Accurate and detailed understanding of the effects of variants in the coding and noncoding regions of the genome is the next big challenge in the new genomic era of personalized medicine, especially to tackle newer findings of genetic and phenotypic heterogeneity of diseases. This is necessary to resolve the gene-variant-disease relationship, the pathogenic variant spectrum of genes, pathogenic variants with variable clinical consequences, and multiloci diseases. In turn, this will facilitate patient recruitment for relevant clinical trials. In this review, we describe the trends in research at the intersection of basic and clinical genomics aiming to (a) overcome molecular diagnostic challenges and increase the clinical utility of next-generation sequencing (NGS) platforms, (b) elucidate variants associated with disease, (c) determine overall genomic complexity including epistasis, complex inheritance patterns such as "synergistic heterozygosity," digenic/multigenic inheritance, modifier effect, and rare variant load. We describe the newly emerging field of integrated functional genomics, in vivo or in vitro large-scale functional approaches, statistical bioinformatics algorithms that support NGS genomics data to interpret variants for timely clinical diagnostics and disease management. Thus, facilitating the discovery of new therapeutic or biomarker options, and their roles in the future of personalized medicine.

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“…In LGMD 2G (telethoninopathy), 50% of patients will show calf hypertrophy and 50% will have calf atrophy. 12 Focal muscle enlargement can also be due to a neoplastic or inflammatory process, ectopic ossification, tendon rupture, or partial denervation.…”

Section: What Is the Distribution Of Weakness?mentioning

confidence: 99%

“…This pattern of weakness is seen in most hereditary and acquired myopathies and, therefore, is the least specific in arriving at a particular diagnosis. 12,14 Pattern 2: Distal Weakness The distal pattern of weakness predominantly involves the distal muscles of the upper or lower extremities (anterior or posterior compartment muscle groups) ( Table 14). 15 Depending on the diagnosis and severity of disease, proximal muscles may also be affected.…”

Section: Pattern 1: Proximal Limb-girdle Weaknessmentioning

confidence: 99%

A Clinical Approach to Muscle Diseases

Jackson

2008

Semin Neurol

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Muscle diseases constitute a large variety of both acquired and hereditary disorders that can affect muscle structure, metabolism, or the function of the muscle channel. A successful clinical approach to a patient with a suspected myopathy is based on a thorough medical history and neurological examination. Associated clinical symptoms such as myoglobinuria, contractures, myotonia, cardiac disease, and respiratory insufficiency can be extremely helpful in limiting the differential diagnosis. In addition, a phenotypic approach to diagnosis according to the patient's predominant pattern of weakness is essential for guiding the physician in selecting the most appropriate diagnostic studies. Although muscle biopsy remains a useful tool, molecular genetic studies are now available for the noninvasive diagnosis of many muscle diseases.

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The Limb Girdle Muscular Dystrophies

Cited by 9 publications

References 118 publications

Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy

Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy

Inferring the effect of genomic variation in the new era of genomics

A Clinical Approach to Muscle Diseases

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