Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular &amp; Electrodiagnostic Medicine

Haliloğlu, Göknur; Kang, Peter B.; Topaloǧlu, Haluk; Morrison, L. V.; Iannaccone, Susan T.; Graham, Robert J.; Bönnemann, Carsten G.; Rutkowski, Anne; Hornyak, Joseph E.; Wang, Ching H.; North, Klaus

doi:10.1212/wnl.0000000000002051

Cited by 4 publications

(7 citation statements)

References 11 publications

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“…3,4 A relatively milder form of congenital muscular dystrophy with structural brain involvement is represented by MEB/FCMD, usually associated with founder mutations in POMGNT1 and FKTN, but less frequently associated with most of the other genes. 4,11 Thus, we decided to correlate the clinicoradiologic phenotype (rather than genotype) with inner ear appearances, and in doing so, we found that 100% of patients with WWS showed striking cochlear abnormalities (12/13 had a characteristic CH4 AOUT), while only 4/11 with MEB/ FCMD had cochlear abnormalities and only 1 had CH4 AOUT. Therefore, the cochlea seems to predict the brain to some extent.…”

Section: Discussionmentioning

confidence: 99%

“…Only patients previously diagnosed clinicoradiologically as having WWS, MEB, or FCMD were included. According to previous literature, 3,4,10,11 a WWS phenotype was defined with observation of very early neurologic symptom onset (prenatally or at birth) and extreme brain abnormalities: complete agyria or severe lissencephaly/cobblestone, marked hydrocephalus, severe cerebellar hypoplasia/dysplasia, and complete or partial absence of the corpus callosum. In addition, a severely hypoplastic and "kinked" brain stem was determined as a characteristic feature of WWS and considered an inclusion criterion in this category.…”

Section: Methodsmentioning

confidence: 99%

“…3,10 Despite a recognized radiologic overlap between MEB and FCMD, 4 clinically, cardiac and respiratory problems with less severe epilepsy were more typical of FCMD, while more severe ocular abnormalities and the absence of cardiac/ respiratory features were more in keeping with MEB. 3,10,11 When pathogenic genetic mutations were available, they were recorded; however, given the weak genotype/phenotype correlation in these disorders, we correlated the clinicoradiologic phenotype with the inner ear phenotype.…”

Section: Methodsmentioning

confidence: 99%

“…8,9 There are only a few anecdotal reports of hearing loss in muscular dystrophy, including a-dystroglycanopathies, but no structural abnormality has been described in a series of patients, to our knowledge. 1,[10][11][12][13] We hereby report the radiologic characteristics, frequency, and correlation with the clinicoradiologic phenotype of inner ear dysplasias encountered in a population of patients with a-dystroglycanopathy collected from 6 tertiary pediatric hospitals.…”

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confidence: 99%

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Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan–Related Muscular Disorders

Talenti

Robson

Severino

et al. 2020

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy are a-dystroglycan-related muscular disorders associated with brain malformations and eye abnormalities in which no structural inner ear abnormality has been described radiologically. We collected patients from 6 tertiary pediatric hospitals and reported the radiologic features and frequency of inner ear dysplasias. MATERIALS AND METHODS:Patients previously diagnosed clinicoradiologically with Walker-Warburg syndrome, muscle-eye-brain disease, or Fukuyama congenital muscular dystrophy were included. We recorded the pathogenic variant, when available. Brain MR imaging and/or CT findings were reviewed in consensus, and inner ear anomalies were classified according to previous description in the literature. We then correlated the clinicoradiologic phenotype with the inner ear phenotype.RESULTS: Thirteen patients fulfilled the criteria for the Walker-Warburg syndrome phenotype, 8 for muscle-eye-brain disease, and 3 for Fukuyama congenital muscular dystrophy. A dysplastic cochlea was demonstrated in 17/24. The most frequent finding was a pronounced cochlear hypoplasia type 4 with a very small anteriorly offset turn beyond the normal-appearing basal turn (12/13 patients with Walker-Warburg syndrome and 1/11 with muscle-eye-brain disease or Fukuyama congenital muscular dystophy). Two of 8 patients with muscleeye-brain disease, 1/3 with Fukuyama congenital muscular dystrophy, and 1/13 with Walker-Warburg syndrome showed a less severe cochlear hypoplasia type 4. The remaining patients without Walker-Warburg syndrome were healthy. The vestibule and lateral semicircular canals of all patients were normal. Cranial nerve VIII was present in all patients with diagnostic MR imaging.CONCLUSIONS: Most patients with the severe a-dystroglycanopathy Walker-Warburg syndrome phenotype have a highly characteristic cochlear hypoplasia type 4. Patients with the milder variants, muscle-eye-brain disease and Fukuyama congenital muscular dystrophy, more frequently have a normal cochlea or milder forms of hypoplasia. ABBREVIATIONS: CH ¼ cochlear hypoplasia; CH4 AOUT ¼ cochlear hypoplasia type 4 with anterior offset of the upper turn; FCMD ¼ Fukuyama congenital muscular dystrophy; MEB ¼ muscle-eye-brain disease; SNHL ¼ sensorineural hearing loss; WWS ¼ Walker-Warburg syndrome

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

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Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan–Related Muscular Disorders

Talenti

Robson

Severino

et al. 2020

AJNR Am J Neuroradiol

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“… 9 , 10 Evidence-based guidelines for CMD diagnosis and care were also released by the Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 11 , 12 …”

Section: Introductionmentioning

confidence: 99%

Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin

Qiao

Dai

Nikolova

et al. 2018

Molecular Therapy - Methods & Clinical Development

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LAMA2-related muscular dystrophy (LAMA2 MD) is the most common and fatal form of early-onset congenital muscular dystrophies. Due to the large size of the laminin α2 cDNA and heterotrimeric structure of the protein, it is challenging to develop a gene-replacement therapy. Our group has developed a novel adeno-associated viral (AAV) vector carrying the mini-agrin, which is a non-homologous functional substitute for the mutated laminin α2. A significant therapeutic effect in skeletal muscle was observed in our previous study using AAV serotype 1 (AAV1). In this investigation, we examined AAV9 vector, which has more widespread transduction than AAV1, to determine if the therapeutic effects could be further improved. As expected, AAV9-mini-agrin treatment offered enhanced therapeutic effects over the previously used AAV1-mini-agrin in extending mouse lifespan and improvement of muscle pathology. Additionally, overexpression of mini-agrin in peripheral nerves of dyw/dyw mice partially amended nerve pathology as evidenced by improved motor function and sensorimotor processing, partial restoration of myelination, partial restoration of basement membrane via EM examination, as well as decreased regeneration of Schwann cells. In conclusion, our studies indicate that overexpression of mini-agrin into dyw/dyw mice offers profound therapeutic effects in both skeletal muscle and nervous system.

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The congenital muscular dystrophies

Topaloğlu,

Poorshiri

2023

Annals of the Child Neurology Society

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BackgroundCongenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life. Most CMDs are autosomal recessive, except for de novo dominant mutations in LMNA‐related muscular dystrophy and some collagen‐6‐associated disorders.ResultsCMD is characterized by progressive muscular weakness, hypotonia, multiple contractures with a variable degree, spinal stiffness, delay in motor milestones acquisition, and histologically dystrophic lesions. Also, some forms of CMD may feature structural and myelination abnormalities on brain magnetic resonance imaging, intellectual impairment, and structural abnormalities of the eye. Muscle biopsy specimens exhibit a dystrophic pattern, but the appearance is quite variable depending on the different stages and severity of the disorder. The prevalence of CMD is estimated to be one in 100 000 people. Over the last few years, with advances in molecular genetic diagnostics, knowledge about neuromuscular disorders, particularly CMDs, has increased dramatically. Thus, the incidence may be higher than originally thought.ConclusionThis article reviews the recent achievements related to the clinical, diagnostic, pathogenic, and therapeutic aspects of CMDs.

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Cited by 4 publications

References 11 publications

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan–Related Muscular Disorders

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan–Related Muscular Disorders

Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin

The congenital muscular dystrophies

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