Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients

Bourteel, H.; Vermersch, Patrick; Jm, Cuisset; Ca, Maurage; Laforêt, Pascal; Richard, P.; Stojkovic, Tanya

doi:10.1136/jnnp.2007.141804

Cited by 34 publications

(29 citation statements)

References 22 publications

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“…In several patients, there was muscle pseudohypertrophy, including the tongue. Respiratory and cardiac functions also demonstrated decline, resembling that reported for other dystroglycanopathies (Mercuri et al , 2003; Murakami et al , 2006; Bourteel et al , 2009; Lefeber et al , 2011; Yilmaz et al , 2011). Therefore, regular surveillance of heart function by ECG and respiratory function by regular overnight polysomnography is required in ISPD- related muscular dystrophy.…”

Section: Discussionsupporting

confidence: 76%

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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Çırak

Foley

Herrmann

et al. 2013

Brain

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Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker–Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy. Their hallmark is a reduction in the functional glycosylation of α-dystroglycan, which can be detected in muscle biopsies. An important part of this glycosylation is a unique O-mannosylation, essential for the interaction of α-dystroglycan with extracellular matrix proteins such as laminin-α2. Mutations in eight genes coding for proteins in the glycosylation pathway are responsible for ∼50% of dystroglycanopathy cases. Despite multiple efforts using traditional positional cloning, the causative genes for unsolved dystroglycanopathy cases have escaped discovery for several years. In a recent collaborative study, we discovered that loss-of-function recessive mutations in a novel gene, called isoprenoid synthase domain containing (ISPD), are a relatively common cause of Walker–Warburg syndrome. In this article, we report the involvement of the ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic ISPD variants in nine cases belonging to seven families. In two ambulant cases, there was evidence of structural brain involvement, whereas in seven, the clinical manifestation was restricted to a dystrophic skeletal muscle phenotype. Although the function of ISPD in mammals is not yet known, mutations in this gene clearly lead to a reduction in the functional glycosylation of α-dystroglycan, which not only causes the severe Walker–Warburg syndrome but is also a common cause of the milder forms of dystroglycanopathy.

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Section: Discussionsupporting

confidence: 76%

“…Muscle MRI shows replacement with fat and connective tissue in the lower limbs with sparing of the semitendinosus and gracilis muscles in the thighs and the tibialis anterior muscle in the calves. Interestingly, the gracilis muscle is also spared in FKRP -related LGMD2I (Bourteel et al , 2009). …”

Section: Discussionmentioning

confidence: 99%

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Çırak

Foley

Herrmann

et al. 2013

Brain

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“…The cardinal symptoms consist of proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy, and respiratory insufficiency. [3][4][5] The myopathological features of LGMD2I are in line with muscular dystrophic changes. The variable reductions of a-dystroglycan and laminin-a2 expression in skeletal muscle can give some indication of the diagnosis.…”

Section: Introductionmentioning

confidence: 94%

Asian patients with limb girdle muscular dystrophy 2I (LGMD2I)

Hong

Zhang

Wang

et al. 2011

Journal of Clinical Neuroscience

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“…Respiratory muscle weakness is a common complication in LGMD2I, affecting 10 of 16 patients in one series [60]. Respiratory failure may occur in patients whilst they are still ambulant, but, typically, this is after several years' disease duration [61,62]. In another series, five patients requiring nocturnal ventilatory support were still ambulant [63].…”

Section: Inherited Muscle Diseasesmentioning

confidence: 97%

Diagnosis of muscle diseases presenting with early respiratory failure

et al. 2014

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Here we describe a clinical approach and differential diagnosis for chronic muscle diseases which include early respiratory failure as a prominent feature in their presentation (i.e. respiratory failure whilst still ambulant). These patients typically present to neurology or respiratory medicine out-patient clinics and a distinct differential diagnosis of neuromuscular aetiologies should be considered. Amyotrophic lateral sclerosis and myasthenia gravis are the important non-muscle diseases to consider, but once these have been excluded there remains a challenging differential diagnosis of muscle conditions, which will be the focus of this review. The key points in the diagnosis of these disorders are being aware of relevant symptoms, which are initially caused by nocturnal hypoventilation or diaphragmatic weakness; and identifying other features which direct further investigation. Important muscle diseases to identify, because their diagnosis has disease-specific management implications, include adult-onset Pompe disease, inflammatory myopathy, and sporadic adult-onset nemaline myopathy. Cases which are due to metabolic myopathy or muscular dystrophy are important to diagnose because of their implications for genetic counselling. Myopathy from sarcoidosis and colchicine each has a single reported case with this presentation, but should be considered because they are treatable. Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TTN mutations), the FHL1-related syndromes, and myofibrillar myopathy due to BAG3 mutation. Recently described syndromes include oculopharyngodistal muscular dystrophy that awaits genetic characterisation.

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Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients

Abstract: This study reveals inter- and intrafamilial phenotypic variability in LGMD2I, with a preponderance of myocardiopathy and restrictive respiratory insufficiency. It also demonstrates central nervous involvement, probably associated with changes in alpha-dystroglycan expression in the brain.

Cited by 34 publications

References 22 publications

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Asian patients with limb girdle muscular dystrophy 2I (LGMD2I)

Diagnosis of muscle diseases presenting with early respiratory failure

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