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Muscular Dystrophy-Dystroglycanopathy Type A4

WWS A4


Presentation

  • The first reported female patient with the Fukuyama type of congenital muscular dystrophy associated with a lack of C-terminal domain of dystrophin is presented.[ncbi.nlm.nih.gov]
  • We diagnosed the present patient as having FCMD based on these considerations, on the clinical severity, including the findings on MR images as discussed below.[neurologyindia.com]
  • Shin'ichi Takeda, Yuko Miyagoe-Suzuki, Madoka Mori-Yoshimura Springer, ٠٢‏/٠٢‏/٢٠١٦ - 199 من الصفحات This book presents recent advances in translational research on muscular dystrophy (MD) to physicians and researchers, including cutting-edge research[books.google.com]
  • The same mutation was present in his father's DNA.[hmg.oxfordjournals.org]
Unable to Stand
  • He was unable to stand, speak, and was incontinent. He acquired social smile at 2 months, partial head control at 8 months, started sitting with support at 9 months and sitting without support at 18 months. He had no seizures.[neurologyindia.com]
Dyspnea at Rest
  • From 2007, he began experiencing worsening dyspnea at rest and was diagnosed with DCM. He suffered from a recurrent non-sustained ventricular tachycardia that required amiodarone.[ejcts.oxfordjournals.org]
Regurgitation
  • Mitral valve regurgitation (MR) was severe (grade 4) and tricuspid valve regurgitation (TR) was moderate (grade 2) (video 1). Coronary angiography was normal.[ejcts.oxfordjournals.org]
Abnormal Eye Movement
  • Ophthalmological findings such as peripheral abnormalities of the retina or abnormal eye movements are often observed in FCMD patients ( 3 ).[hmg.oxfordjournals.org]
  • Infants present with dysmorphic features, hypotonia, and hyporeflexia, abnormal eye movements and poor feeding.[mrineonatalbrain.com]
Denial
  • A poorly-prepared disability application can result in the delay of your disability approval or even a denial of Social Security Disability benefits, resulting in the need for a disability appeal .[disability-benefits-help.org]
  • More often than not, their initial response is a denial of benefits. This usually leads to an even longer fight in the appeals process .[disabilitybenefitscenter.org]
Incontinence
  • He was unable to stand, speak, and was incontinent. He acquired social smile at 2 months, partial head control at 8 months, started sitting with support at 9 months and sitting without support at 18 months. He had no seizures.[neurologyindia.com]
Hyporeflexia
  • Infants present with dysmorphic features, hypotonia, and hyporeflexia, abnormal eye movements and poor feeding.[mrineonatalbrain.com]

Workup

Hypercholesterolemia
  • Moreover, we observe exon-trapping in other SVA insertions associated with disease (hypercholesterolemia, neutral lipid storage disease) and human-specific SVA insertion in a novel gene.[ncbi.nlm.nih.gov]

Treatment

  • AON treatment also restored fukutin functions, including O-glycosylation of α-dystroglycan (α-DG) and laminin binding by α-DG.[ncbi.nlm.nih.gov]
  • A 3-year-9-month old, 13kg girl with Fukuyama type congenital muscular dystrophy was scheduled for dental treatment under general anesthesia. She had multiple caries and 14 primary teeth needed caries treatment.[journal.kapd.org]
  • More than half of all affected children also experience seizures TREATMENT There is no definitive treatment for FCMD. There is treatment that is designed to improve quality of life.[secure.ssa.gov]
  • […] exists. [13] Treatment offers preventative tactics to delay muscle breakdown and increase life expectancy.[en.wikipedia.org]
  • The following treatments are available though: Treatments to delay muscle breakdown and increase life expectancy, such as through physical therapy and stretching to increase mobility or benefit the muscles, may be attempted Individuals with seizures may[dovemed.com]

Prognosis

  • (Outcomes/Resolutions) In general, Fukuyama Type Congenital Muscular Dystrophy has a poor prognosis.[dovemed.com]
  • Prognosis - Fukuyama type muscular dystrophy Not supplied. Treatment - Fukuyama type muscular dystrophy Not supplied. Resources - Fukuyama type muscular dystrophy Not supplied.[checkorphan.org]
  • Treatment and prognosis No disease-modifying therapy is available (as of 2017), and management relies on input from allied health services.[radiopaedia.org]
  • ACE inhibitors and beta blockers help treat heart conditions, and respiratory assistance is more than likely needed at some point for the affected individual [2] [13] [14] Prognosis [ edit ] Fukuyama congenital muscular dystrophy has a poor prognosis.[en.wikipedia.org]
  • […] disorders are discussed. comments: a better knowledge of congenital muscular dystrophies will improve the number of correct diagnoses and open new horizons for the treatment of such diseases. genetic evaluation of ucmd patients has relevant implications for prognosis[oalib.com]

Etiology

  • (Etiology) Fukuyama Type Congenital Muscular Dystrophy is inherited in an autosomal recessive manner The cause of this disorder is a mutation in the gene that instructs the production of fukutin, a type of protein.[dovemed.com]
  • The large overlap of clinical presentations due to mutations in different genes poses a challenge for clinicians in determining disease etiology for each patient.[content.iospress.com]
  • The exact genetic mutation and etiology has not been found. Merosin positive CMD is a nonspecific diagnosis; because of this, persons with Merosin positive CMD may have a variable presentation.[disabled-world.com]

Epidemiology

  • A genetical epidemiological study on congenital progressive muscular dystrophy (Fukuyama type). J. Tokyo Women's med. Coll. 48, 112–149 (1978). 31 Takeshita, K., Yoshino, K., Kitahara, T., Nakashima, T. & Kato, N.[nature.com]
  • Relevant External Links for FKTN Genetic Association Database (GAD) FKTN Human Genome Epidemiology (HuGE) Navigator FKTN Atlas of Genetics and Cytogenetics in Oncology and Haematology: FKTN No data available for Genatlas for FKTN Gene Congenital muscular[genecards.org]
  • The only epidemiological study of the CMD's comes from a study in northern Italy, which placed disease prevalence at 8 x 106 (Mostacciulo ML, et al, 1996).[disabled-world.com]
  • A genetical and epidemiological study on congenital progressive muscular dystrophy (Fukuyama type). J Tokyo Women's Med Coli (Tokyo) 1978;48: 112-49. Ley ten et al: Congenital muscular dystrophy 537[docslide.com.br]
  • Epidemiology Frequency International An Italian study identified mutations in 220 of 336 patients (65.5%).[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • These data suggest that the pathophysiological findings of FCMD can be explained by less severe cardiac dysfunction in FCMD than DMD. Copyright 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.[ncbi.nlm.nih.gov]
  • This second mutation has only been found to date in the presence of the first mutation. [10] Pathophysiology [ edit ] The mechanism of this sub-type of muscular dystrophy consists of a mutation in the FKTN gene which results in a malformed fukutin protein[en.wikipedia.org]
  • Pathophysiology The pathophysiology of the congenital muscular dystrophies depends on the specific genetic defect for each of the dystrophies and is discussed with each of the congenital muscular dystrophies below.[emedicine.medscape.com]
  • A study of fukutin will open new avenues for understanding the pathophysiological mechanisms underlying these complex disorders consisting of cortical dysgenesis, congenital muscular dystrophy and eye malformation.[hmg.oxfordjournals.org]

Prevention

  • […] cobblestones A diagnosis of this disorder can be made through medical history and physical exams with other blood tests and procedures to assist in the diagnosis The treatment of Fukuyama Type Congenital Muscular Dystrophy includes physical therapy to prevent[dovemed.com]
  • Introduction of antisense oligonucleotides (AONs) targeting the splice acceptor, the predicted exonic splicing enhancer and the intronic splicing enhancer prevented pathogenic exon-trapping by SVA in cells of patients with FCMD and model mice, rescuing[ncbi.nlm.nih.gov]
  • Antiepileptic medication is administered to help prevent seizures.[en.wikipedia.org]
  • Prevention - Fukuyama type muscular dystrophy Not supplied. Diagnosis - Fukuyama type muscular dystrophy Not supplied. Prognosis - Fukuyama type muscular dystrophy Not supplied. Treatment - Fukuyama type muscular dystrophy Not supplied.[checkorphan.org]
  • Such treatment can involve physical therapy with stretching exercises to promote mobility and prevent contractures, instruction in the use of mechanical assistive devices, weight control to avoid obesity, and instruction in the use of mechanical assistive[secure.ssa.gov]

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