Limb-girdle muscular dystrophies in India: A review

Khadilkar, Satish V; Faldu, Hinaben Dayalal; Patil, Sharad D.; Singh, Rakesh K.

doi:10.4103/aian.aian_81_17

Cited by 17 publications

(18 citation statements)

References 81 publications

(88 reference statements)

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“…As several GNE myopathy patients have been identified by genetic panels or next-generation sequencing studies on patient cohorts with limb-girdle muscular dystrophy phenotype and other undiagnosed myopathies [74,78,79], the GNE gene should be included on neuromuscular or similar gene sequencing panels. Sanger sequencing should be used to confirm any variants identified by exome or whole genome analysis.…”

Section: Genetic Testingmentioning

confidence: 99%

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

2018

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GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is caused by mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. The pathophysiology of the disease is not entirely understood, but hyposialylation of muscle glycans is thought to play an essential role. The typical presentation is bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood. The disease slowly progresses over the next decades to involve skeletal muscles throughout the body, with relative sparing of the quadriceps until late stages of the disease. The diagnosis of GNE myopathy should be considered in young adults presenting with bilateral foot drop. Histopathologic findings on muscle biopsies include fiber size variation, atrophic fibers, lack of inflammation, and the characteristic Brimmed^vacuoles on modified Gomori trichome staining. The diagnosis is confirmed by the presence of pathogenic (mostly missense) mutations in both alleles of the GNE gene. Although there is no approved therapy for this disease, preclinical and clinical studies of several potential therapies are underway, including substrate replacement and gene therapy-based strategies. However, developing therapies for GNE myopathy is complicated by several factors, including the rare incidence of disease, limited preclinical models, lack of reliable biomarkers, and slow disease progression.

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Section: Genetic Testingmentioning

confidence: 99%

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

2018

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“…In many populations, individuals marry within their communities (intracommunal exogamy), limiting the genetic pool and facilitating recessive transmission despite lack of overt consanguinity 7. On the other hand, sporadic cases are more common in the developed regions of world and free societies.…”

Section: Clinical Approachmentioning

confidence: 99%

Making sense of the clinical spectrum of limb girdle muscular dystrophies

2018

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The expansion of the spectrum of limb girdle muscular dystrophies (LGMDs) in recent years means that neurologists need to be familiar with the clinical clues that can help with their diagnosis. The LGMDs comprise a group of genetic myopathies that manifest as chronic progressive weakness of hip and shoulder girdles. Their inheritance is either autosomal dominant (LGMD1) or autosomal recessive (LGMD2). Their prevalence varies in different regions of the world; certain ethnic groups have documented founder mutations and this knowledge can facilitate the diagnosis. The clinical approach to LGMDs uses the age at onset, genetic transmission and clinical patterns of muscular weakness. Helpful clinical features that help to differentiate the various subtypes include: predominant upper girdle weakness, disproportionate respiratory muscle involvement, distal weakness, hip adductor weakness, 'biceps lump' and 'diamond on quadriceps' sign, calf hypertrophy, contractures and cardiac involvement. Almost half of patients with LGMD have such clinical clues. Investigations such as serum creatine kinase, electrophysiology, muscle biopsy and genetic studies can complement the clinical examination. In this review, we discuss diagnostic clinical pointers and comment on the differential diagnosis and relevant investigations, using illustrative case studies.

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“…Autosomal dominant types are extremely exceptional and usually less severe as compared to recessive types. In these LGMD1B, 1C, 2B, 2C, 2D, 2E, 2F are more frequent and common [16][17][18].…”

Section: Limb Girdle Muscular Dystrophy (Lgmd)mentioning

confidence: 99%

Metabolic Disturbance in Patients with Muscular Dystrophy and Reflection of Altered Enzyme Activity in Dystrophic Muscle: One Critical View

Srivastava¹,

Mukherjee²,

Mishra³

2020

J Biomed Res Environ Sci

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Muscular dystrophies are inherited myogenic diseases and considered by progressive muscle wasting and weakness with variable distribution and severity. The essential characteristics of muscular dystrophies are selective involvement, significant wasting and weakness of muscles. The most common and frequent types of muscular dystrophies are Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Facioscapulohumeral Dystrophy (FSHD) and Limb Girdle Muscular Dystrophy (LGMD). Metabolic disturbance is observed in muscular dystrophy patients (DMD, BMD, FSHD and LGMD-2B). Alteration in the level of metabolites (BCAA, Glu/ Gln, Ace, alanine, glucose, histidine, propionate, tyrosine and fumarate) in dystrophic muscle reflects the alteration in the activity of enzymes. Collectively, these observations propose that there is alteration in the rate of glycolysis, TCA cycle, fatty acid oxidation, gluconeogenesis pathway and protein metabolism (catabolism & anabolism) in the muscular dystrophy patients. Metabolic disturbance, further provide the explanation about the pathophysiology of muscular dystrophy.

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Limb-girdle muscular dystrophies in India: A review

Cited by 17 publications

References 81 publications

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

Making sense of the clinical spectrum of limb girdle muscular dystrophies

Metabolic Disturbance in Patients with Muscular Dystrophy and Reflection of Altered Enzyme Activity in Dystrophic Muscle: One Critical View

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