Clinical characteristics.

Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and brain malformations including, classically, cobblestone lissencephaly with cerebral and cerebellar dysplasia. There is a spectrum of severity and mild, typical, and severe phenotypes are recognized. Disease onset typically occurs in early infancy with poor suck/swallow, weak cry, and floppiness. Serum creatine kinase (CK) levels are usually in the thousands (10-60 times higher than normal). Motor development peaks at around age five to six years and thereafter regresses as muscle atrophy progresses. In the typical case, sitting without support or sliding along the floor on the buttocks may be the peak motor function. Deep tendon reflexes are diminished or absent after early infancy. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later-onset features include a myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech delays, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement after age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death.

Diagnosis/testing.

The diagnosis of FCMD is established in a proband with biallelic pathogenic variants in FKTN identified by molecular genetic testing.

Management.

Treatment of manifestations: Physical therapy and stretching exercises, treatment of orthopedic complications; mobility assistance devices such as long leg braces and wheelchairs; use of noninvasive respiratory aids or tracheostomy; prompt treatment of respiratory tract infections; anti-seizure medications; medical and/or surgical treatment for gastroesophageal reflux; gastrostomy tube placement when indicated to assure adequate caloric intake; cardiomyopathy treatment per cardiologist.

Surveillance: Monitor gastrointestinal function and for signs/symptoms of gastroesophageal reflux; for orthopedic complications including foot deformities and scoliosis; for myocardial involvement by chest radiography, EKG, and echocardiography in individuals older than age ten years; and respiratory function in individuals with advanced disease.

Genetic counseling.

FCMD is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an FKTN pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the FKTN pathogenic variants have been identified in an affected family member, carrier testing for at-risk family members and prenatal/preimplantation genetic testing are possible.

Suggestive Findings

FCMD should be suspected in individuals with the following clinical, imaging, laboratory, and histopathology findings and family history.

Clinical findings

• Early-infantile-onset hypotonia and weakness with contractures of the hips, knees, and interphalangeal joints. Muscle weakness is typically progressive with age of onset younger than nine months.
• Severe motor and speech delays and intellectual disability with relative preservation of social skills
• A static course until early childhood, followed by diffuse and extensive muscle wasting (most prominent proximally) and progressive joint contractures
• Myopathic facial appearance
• Pseudohypertrophy of the calves and forearms in late infancy
• Seizures (febrile and/or nonfebrile)
• Ophthalmologic abnormalities, including visual impairment and retinal abnormalities. Retinal abnormalities, when present, are usually mild and focal. Retinal dysplasia, a pathologic diagnosis, is based on the finding of rosettes of immature photoreceptors.
• Dysphagia and other swallowing issues
• Respiratory issues
• Cardiomyopathy

Neuroimaging findings. Early brain MRI reveals several abnormalities:

• Cortical malformations including, classically, cobblestone lissencephaly with an irregular or pebbled brain surface; broad gyri with a thick cortex (pachygyria) in the frontal, parietal, and temporal regions; and sometimes areas of small and irregular gyri that resemble polymicrogyria
• Dilated lateral ventricles
• White matter abnormalities with hyperintensity on T₂-weighted images and hypointensity on T₁-weighted images indicative of delayed myelination rather than dysmyelination
• Cerebellar polymicrogyria and cerebellar cysts
• Mild brain stem hypoplasia in some individuals

Additional findings include:

• The opercula are poorly developed, leaving an open Sylvian fissure.
• The cortex is typically no more than approximately 1 cm in thickness.

Laboratory findings. Elevated serum creatine kinase (CK) concentration:

• Age <6 years: 10-60 times above normal
• Age ≥7 years: 5-20 times above normal
• Bedridden individuals: normal

Histopathology. Muscle biopsy may show several abnormalities:

• Findings characteristic of muscular dystrophy. Primary feature is interstitial fibrosis without muscle degeneration and regeneration, which distinguishes FCMD from Duchenne muscular dystrophy.
• Immunohistochemical staining using alpha-dystroglycan antibody reveals selective deficiency of alpha-dystroglycan on the surface membrane of skeletal muscle.

Note: With the advent of molecular genetic testing, a muscle biopsy is no longer necessary to establish the diagnosis of FCMD (see Establishing the Diagnosis).

Electromyography (EMG) findings are characteristic of muscular dystrophy, i.e., motor unit action potential shows low amplitude, short duration, and polyphasic myogenic changes.

Family history is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

The diagnosis of FCMD is established in a proband with biallelic pathogenic (or likely pathogenic) variants in FKTN identified by molecular genetic testing (see Table 1 and Figure 1).

Figure 1.

Diagnostic algorithm for FCMD

Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (2) Identification of biallelic FKTN variants of uncertain significance (or of one known FKTN pathogenic variant and one FKTN variant of uncertain significance) does not establish or rule out the diagnosis.

Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing) depending on the phenotype.

Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of FCMD is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those with a phenotype indistinguishable from many other inherited disorders with muscular dystrophy are more likely to be diagnosed using genomic testing (see Option 2).

Clinical Description

Fukuyama congenital muscular dystrophy (FCMD) is characterized by dystrophic changes in the skeletal muscle and by central nervous system migration abnormalities resulting in cerebral and cerebellar cortical dysplasia. Clinical manifestations include hypotonia, weakness, and neurodevelopmental delays. Mild, typical, and severe phenotypes are recognized. The phenotypic spectrum ranges from a Walker-Warburg syndrome-like phenotype at the severe end [Manzini et al 2008, Chang et al 2009, Yis et al 2011] to a limb-girdle muscular dystrophy-like phenotype at the mild end [Puckett et al 2009, Yis et al 2011, Fiorillo et al 2013].

To date, at least 500 individuals have been identified with biallelic pathogenic variants in FKTN [Kondo-Iida et al 1999, Saito & Kobayashi 2001, Matsumoto et al 2005, Yoshioka et al 2008, Kitamura et al 2016, Kobayashi et al 2017, Ishigaki et al 2018, Suzuki et al 2022]. The following description of the phenotypic features associated with this condition is based on these reports.

Neurologic features. Disease onset typically occurs in early infancy. Initial clinical manifestations include poor suck, mildly weak cry, floppiness, and motor developmental delays. Symmetric generalized muscle weakness and hypotonia are present. Some infants exhibit poor weight gain.

Predominantly proximal hypotonia manifests as hyperextensibility of the shoulders and trunk. Limitation of hip extension, hip abduction, and knee extension is also observed and increases with time. "Puffy" cheeks and pseudohypertrophy of the calves and forearms are evident in late infancy. Up to age three years, the cheeks are round, enlarged, and hard to the touch, and the skin above the cheeks appears shiny, but afterward they become atrophic. Deep tendon reflexes are diminished or absent after early infancy. Facial muscle involvement (myopathic facies) is obvious from age six to 12 months and increases with age [Osawa et al 1997]. Open mouth, prognathism, and macroglossia become more evident in childhood. Swallowing difficulties develop after age six years. The disease course may be static until early childhood, followed by diffuse and extensive muscle wasting (most prominent proximally) and later progressive joint contractures.

Developmental and speech delays occur in all individuals. IQ range is usually 30 to 60. In individuals with mild FCMD, the IQ is greater than 35; in individuals with severe FCMD, the IQ is typically lower than 30. The maximum development in an individual with typical FCMD often consists of dozens of spoken words, sitting without help, and sliding along the floor on the buttocks. Individuals with mild FCMD may achieve independent walking or standing. Individuals with severe FCMD may lack head control or the ability to sit independently.

Social development of individuals with FCMD is not as severely affected as physical and mental abilities [Saito & Kobayashi 2001]. Children with FCMD tend to be the favorites in their nursery, kindergarten, or primary school. Even severely affected individuals with FCMD show eye contact, recognize family members, and make demands through vocalizations. Autistic features are rarely observed.

Seizures occur in more than 60% of affected individuals [Yoshioka et al 2008]. Average ages of onset of febrile and nonfebrile seizures were 5.4 and 4.6 years, respectively, in individuals homozygous for the Japanese founder variant (the 3062-bp insertion [nt.5889] within the 3' UTR). The average ages of onset of febrile and nonfebrile seizures were 3.6 and 3.7 years, respectively, in individuals who were compound heterozygous for the Japanese founder variant and an additional pathogenic FKTN variant [Yoshioka et al 2008]. In addition, seizures may develop after childhood in advanced stages of FCMD [Kuwayama et al 2021].

Ocular abnormalities including refractive error (myopia and hypermetropia) are seen in 40%-53% of individuals. Abnormalities of the retina are seen in 32% of those with more severe FCMD [Chijiiwa et al 1983, Tsutsumi et al 1989, Osawa et al 1997, Saito & Kobayashi 2001]; however, retinal dysplasia is mild and focal. Pathologic findings in individuals with FCMD, including fetuses, have been demonstrated even in the absence of ophthalmologic findings; retinal dysplasia may occur during the fetal period [Hino et al 2001].

In a few individuals with severe FCMD confirmed with molecular genetic testing, severe ocular anomalies include microphthalmia, retinal detachment, retinal hypoplasia, cataracts, and glaucoma [Mishima et al 1985, Hino et al 2001, Saito & Kobayashi 2001, Manzini et al 2008, Chang et al 2009, Ishigaki et al 2018]. Note: The characteristic ocular findings of muscle-eye-brain disease (MEBD) or Walker-Warburg syndrome (WWS) (e.g., anterior chamber abnormalities, glaucoma) are not present in FCMD (see Differential Diagnosis).

Slowly progressive cardiac involvement is characteristic of FCMD. The clinical progression of cardiac dysfunction is significantly milder than Duchenne muscular dystrophy (DMD) [Yamamoto et al 2017]. Individuals who live more than ten years tend to develop fibrosis of the myocardium, as evidenced by postmortem findings [Finsterer et al 2010]. In an evaluation of left ventricular (LV) function using M-mode and Doppler echocardiography in 34 individuals with FCMD, eight of 11 individuals older than age 15 years showed decreased LV systolic function [Nakanishi et al 2006]. The brain natriuretic peptide concentration showed no correlation with age or LV ejection fraction [Yamamoto et al 2017].

Swallowing dysfunction is observed in individuals with infantile FCMD (especially in those with severe FCMD) [Ishigaki et al 2018] and in individuals older than age ten years with advanced disease. Inability to swallow leads to recurrent aspiration pneumonia and death [Hill et al 2004].

Murakami et al [2012] reported sudden exacerbation of muscle weakness with marked elevation of serum creatine kinase (CK) and urinary myoglobin levels a few days after a febrile episode of viral infection, occasionally leading to death. On the other hand, it has been reported that CK levels decrease in association with an increase in C-reactive protein (CRP) during febrile infectious episodes, and this may be related to an increase in endogenous cortisol secretion [Takeshita et al 2021].

Neuropathologic findings. Examination of the brain in FCMD shows changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia caused by a defect in neuronal migration [Saito et al 2000b]. These changes are similar to but typically less severe than the abnormalities described in MEBD and WWS (see Differential Diagnosis).

Infants can have extensive areas of pachygyria involving both cerebral hemispheres, a feature that is more prominent over the frontal and temporal lobes than the parietal and occipital lobes.

Cerebellar cysts, lined with the molecular layer and containing leptomeningeal tissue, were observed beneath the malformed cerebellar cortex or areas of polymicrogyria [Aida 1998]. Although distinctive enough to be diagnostic of cobblestone lissencephaly, these changes do not distinguish between FCMD and MEBD or WWS.

In juvenile and adult cases, agyric areas are more focal and restricted to the occipital lobes. Lissencephalic or agyric areas of malformed cortex may alternate with regions of polymicrogyria, based on fusion of gyri and excessive migration of glio-mesenchymal tissue extending into the subarachnoid space.

A malformed or flat ventral surface of the medulla caused by secondary hypoplasia associated with a small basis pontis and grooves in the spinal cord has been observed [Saito & Kobayashi 2001].

In fetal cases, neurons and glia migrate through focal defects in the glia limitans, forming verrucous nodules, the initial manifestation of cortical dysplasia. Thus, the overmigration of central nervous system parenchyma into subarachnoid spaces is a pathologic process that is considered essential to the development of cortical dysplasia [Nakano et al 1996, Yamamoto et al 1997, Saito et al 1998].

Muscle biopsy findings. On muscle biopsy, muscle pathology shows circular, small-diameter fibers and connective tissue proliferation in addition to muscular dystrophy findings. Immunohistochemical staining shows reduced staining with antibodies against the glycan of alpha-dystroglycan.

Genotype-Phenotype Correlations

FCMD is classified into three clinical types based on the individual's maximum motor abilities. (1) The typical type is assigned to individuals who are able to sit unassisted or slide on the buttocks (never stand independently); (2) the mild type is assigned to individuals who can stand or walk with or without support; and (3) the severe type is defined as individuals who can sit only with support or with no head control (they never sit independently) [Kondo-Iida et al 1999, Saito et al 2000a, Saito & Kobayashi 2001]. Typically, brain and ocular findings also show the same severity as motor function [Saito et al 2000a].

Kondo-Iida et al [1999] and Kobayashi et al [2017] analyzed FKTN in 107 unrelated affected individuals. Individuals homozygous for the 3062-bp insertion within the 3' UTR typically have a milder phenotype than individuals who are compound heterozygous for the 3062-bp insertion in combination with a pathogenic missense or nonsense variant on the other allele. The severe phenotype, including Walker-Warburg syndrome (WWS)-like manifestations such as hydrocephalus and microphthalmia, was significantly more common in probands who were compound heterozygous for a single-nucleotide variant and the 3062-bp insertion than in homozygotes for the 3062-bp insertion [Saito et al 2000a, Yoshioka 2009, Kobayashi et al 2017].

Chang et al [2009] identified a homozygous c.1167dupA FKTN pathogenic variant in four individuals of Ashkenazi Jewish ancestry with features of WWS and suggested that this may be an Ashkenazi Jewish founder variant.

Godfrey et al [2006], Godfrey et al [2007], Puckett et al [2009], Yis et al [2011], and Fiorillo et al [2013] reported a milder limb-girdle muscular dystrophy (LGMD)-like phenotype in individuals who are compound heterozygous for a pathogenic missense variant and a frameshift variant or homozygous for pathogenic missense variants (see Genetically Related Disorders).

Prevalence

FCMD is pan ethnic but is most common in individuals of Japanese ancestry. FCMD is second in prevalence to DMD among all subtypes of childhood progressive muscular dystrophy in Japan, with an incidence of 0.7-1.2 in 10,000 births. Chromosomes bearing the FKTN Japanese founder variant (the 3062-bp insertion within the 3' UTR) are derived from a single ancestral founder who lived 2,000-2,500 years ago. It was found in only one of 176 chromosomes in unrelated healthy individuals [Kobayashi et al 1998].

The average occurrence of heterozygous carriers identified in various regions of Japan is estimated to be one in 188. However, in Korean populations, one carrier was detected in 935 individuals, and researchers were unable to detect any heterozygous pathogenic variants in 203 individuals of Mongolian ancestry and 766 individuals from mainland China [Watanabe et al 2005].

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with FCMD, the evaluations summarized in Table 5 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Treatment of Manifestations

There is no cure for Fukuyama congenital muscular dystrophy. Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see Table 6).

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 7 are recommended.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Antisense oligonucleotide therapy. Taniguchi-Ikeda et al [2011] reported that introduction of targeted antisense oligonucleotides in cell cultures from individuals with FCMD and in mouse models rescued normal ribitol-5-phosphate transferase FKTN (FKTN; also called fukutin) mRNA expression and protein production, demonstrating the promise of splicing modulation therapy as a precision therapy for FCMD. Enkhjargal et al [2023] reported that an antisense oligonucleotide targeting the exonic splice enhancer region significantly induced pseudoexon skipping and restored normal FKTN production and functional O-mannosyl glycosylation of alpha-dystroglycan in FCMD patient-derived cells carrying compound heterozygous pathogenic variants (the deep intronic variant c.648-1243G>T and the 3062-bp insertion founder variant). This study demonstrates the feasibility of treating FCMD caused by compound heterozygous pathogenic variants.

Supplementation therapy. Kanagawa et al [2016] reported that ribitol-5-phosphate is a functional glycan unit in mammals and that defects in its post-translational modification pathway are a cause of ISPD-, FKRP-, and FKTN-related alpha-dystroglycanopathies. Since ISPD deficiency leads to a loss of or severe reduction in cellular CDP-ribitol, the supplementation of CDP-ribitol may be effective in treating FCMD. Gerin et al [2016] showed that ribitol supplementation to fibroblasts from individuals with ISPD pathogenic variants leads to a partial rescue of alpha-dystroglycan glycosylation.

Gene therapy. The effectiveness of recombinant adeno-associated virus serotype 9-mediated FKTN and FKRP gene delivery has been demonstrated using FCMD and limb-girdle muscular dystrophy (LGMD) model mice, respectively [Kanagawa et al 2013, Xu et al 2013]. Earlier intervention would be highly preferred [Vannoy et al 2017].

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.

Mode of Inheritance

Fukuyama congenital muscular dystrophy (FCMD) is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

• The parents of an affected child are presumed to be heterozygous for an FKTN pathogenic variant.
• Molecular genetic testing is recommended for the parents of a proband to confirm that both parents are heterozygous for an FKTN pathogenic variant and to allow reliable recurrence risk assessment.
• If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a de novo event in the proband or as a postzygotic de novo event in a mosaic parent [Jónsson et al 2017]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:
  • A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;
  • Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.
• Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Sibs of a proband

• If both parents are known to be heterozygous for an FKTN pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
• Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Offspring of a proband. Individuals with FCMD are not known to reproduce.

Other family members. Each sib of the proband's parents is at a 50% risk of being a carrier of an FKTN pathogenic variant.

Carrier Detection

Carrier testing for at-risk relatives requires prior identification of the FKTN pathogenic variants in the family.

Related Genetic Counseling Issues

Family planning

• The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy.
• It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are carriers or are at risk of being carriers.
• Carrier testing should be considered for the reproductive partners of known carriers, particularly if both partners are of the same ancestral background. Founder variants have been identified in Japanese, Korean, and Chinese populations (see Table 8).

Prenatal Testing and Preimplantation Genetic Testing

Once the FKTN pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Note: In families segregating the 3062-bp insertion (nt.5889) Japanese founder variant, prenatal testing using haplotype analysis is considered the most accurate method for prenatal testing [K Saito, personal observation]. In Japanese individuals, as detection of the ancestral haplotype facilitates the most accurate prenatal diagnosis of FCMD, prenatal diagnosis is performed by haplotype analysis by markers closest to the gene using fetal DNA from chorionic villus sampling (CVS) at 10-12 weeks' gestation [Saito et al 1998, Saito 2006].

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Molecular Pathogenesis

The dystroglycanopathy genes FKTN, FKRP, and ISPD encode essential enzymes for their respective functions: FKTN and FKRP transfer ribitol-phosphate onto sugar chains of alpha-dystroglycan, and ISPD synthesizes CDP-ribitol, a donor substrate for FKTN and FKRP [Kanagawa et al 2016]. FKTN, FKRP, and ISPD are directly involved in the synthesis of the tandem RboP: FKTN and FKRP are RboP transferases, and ISPD is involved in cellular CDP-ribitol synthesis [Kanagawa et al 2016]. In addition, TMEM5 is a UDP-xylosyl transferase enzyme required for modification of ribitol that is in a phosphodiester linkage to the core M3 glycan on alpha-dystroglycan [Praissman et al 2016]. FCMD is a disease of ribitol-phosphate deficiency.

Dystroglycans bind to laminin in the basement membrane via sugar chains outside the cell and bind to dystrophin inside the cell, thereby linking the basement membrane with the cytoskeleton. Glycosylation is required for the binding of alpha-dystroglycan to laminin, so sugar chain abnormalities can disrupt the coordination between laminin (basement membrane), dystroglycan, dystrophin, and actin (cytoskeleton), making muscle fibers vulnerable. The foundation structure for the elongation of sugar chains with laminin-binding ability is ribitol-phosphate. FKTN is a ribitol-phosphate transferase, and in individuals with FCMD, ribitol-phosphate structures are not formed; thus, sugar chains with laminin-binding ability are not formed, leading to disease [Kanagawa & Toda 2017].

Mechanism of disease causation. Loss of function

Author Notes

Diagnostic guidelines have been developed by the Information Center for Specific Pediatric Chronic Diseases, Japan (see Fukuyama type congenital muscular dystrophy).

Acknowledgements

Thanks to Dr Eri Kondo-Iida for her advice, Mr Mamoru Yokomura for genetic testing, and Dr Naoko Sato for her advice on the interpretation of FKTN variants.

Revision History

• 8 May 2025 (gm) Comprehensive update posted live
• 3 July 2019 (sw) Comprehensive update posted live
• 10 May 2012 (me) Comprehensive update posted live
• 26 January 2006 (me) Review posted live
• 8 October 2004 (ks) Original submission

Published Guidelines / Consensus Statements

• Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC, et al. 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 & Electrodiagnostic Medicine. Neurology. 2015;84:1369–78.
• Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R, et al. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010;25:1559–81.

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