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Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy due to Integrin Alpha 7 Deficiency


Presentation

  • Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures.[uniprot.org]
  • Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity.[ncbi.nlm.nih.gov]
  • ): Congenital muscular dystrophy with ITGA7 deficiency Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy , Neonatal ICD-10: G71.2 OMIM: 613204 UMLS: C2750786 MeSH: - GARD: 12587 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • […] hereditary ataxias Includes 440 all-new, high-quality illustrations ranging from anatomical drawings to clinical photographs and pathology specimens, with many images taken with permission from the authors’ own patients The structured text integrates presentation[books.google.com]
Neonatal Hypotonia
  • hypotonia ; Scoliosis ; Skeletal muscle atrophy Associated Genes ITGA7 Mouse Orthologs Itga7 Source OMIM:613204 (names, synonyms, disease associated genes) , Orphanet (disease classes) , HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes[mousephenotype.org]
  • Chapter First Online: 27 June 2014 Abstract This form of congenital muscular dystrophy is characterized by neonatal hypotonia, proximal muscle weakness and atrophy, delayed motor development, cognitive impairment, scoliosis, dyspnea due to respiratory[link.springer.com]
  • M MD*; Zanoteli, Edmar MD, PhD‡; Zatz, Mayana PhD*; Vainzof, Mariz PhD* Original Article Abstract Author Information Congenital muscular dystrophies (CMD) are characterized by neonatal hypotonia and/or artrogriposis associated with a dystrophic muscle[journals.lww.com]
Cranial Neuropathy
  • neuropathies chapter Reflects a more global approach, as each chapter is written by an international expert in the field Delivers expanded coverage of degenerative diseases of the nervous system, with sections on dementias, Parkinson’s disease and Parkinsonian[books.google.com]
Gowers Sign
  • She acquired independent ambulation at 2 years, but Gowerssign and waddling gait were observed. She had never been able to climb stairs without support and could not run.[link.springer.com]
Poor Spontaneous Movements
  • Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity.[ncbi.nlm.nih.gov]
Cerebellar Disease
  • The last part of the volume is dedicated to care and rehabilitation in cerebellar diseases : their correct diagnosis is pivotal in order to address patients to the appropriate genetic testing, plan clinical management and therapeutic strategies, and provide[books.google.com]

Workup

Creatine Phosphokinase Increased
  • Symptoms of Muscular dystrophy, congenital, due to integrin alpha-7 deficiency Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of metabolism/homeostasis CREATINE PHOSPHOKINASE INCREASED Abnormality of the musculature Congenital[familydiagnosis.com]

Treatment

  • See also the following treatment articles: Treatments for Muscular Dystrophy Causes See also causal information: Causes of Muscular Dystrophy Similar Topic Articles Muscular dystrophy Integrin alpha-7 deficiency Names and Terminology References Source[familydiagnosis.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • […] high-quality illustrations ranging from anatomical drawings to clinical photographs and pathology specimens, with many images taken with permission from the authors’ own patients The structured text integrates presentation, pathology, radiology, diagnosis, and treatment[books.google.com]

Prognosis

  • 膠芽腫において肝臓でのP450を誘導する抗痙攣薬の服薬は理論的には化学療法薬の代謝を促進させてしまうが、予後因子であった Patterns of relapse and prognosis after bevacizumab failure in recurrent glioblastoma. Neurology 2009 73: 1200-1206.[treatneuro.com]
  • In addition, in the heterozygotes the mutation different from the 3 kb insertion founder mutation, according to its type, could influence the seizure prognosis 178.[scielo.br]
  • Since both Ullrich and Bethlem phenotypes show clinical and genetic heterogeneity, the molecular diagnosis is helpful for the defining the prognosis and for an accurate genetic counseling.[cyberleninka.org]

Etiology

  • Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology. Am J Pathol. 2002;160(6):2135–43.[link.springer.com]
  • Antibodies against the intracellular domain of the integrin alpha 7A and alpha 7B were used to stain muscle biopsies from 210 patients with muscular dystrophy/myopathy of unknown etiology.[ncbi.nlm.nih.gov]
  • 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]
  • Diagnosis and etiology of congenital muscular dystrophy. Neurology 2008 71: 312-321.[treatneuro.com]
  • Diagnosis and etiology of congenital muscular dystrophy. Neurology. 2008;71(5):312–21. pmid:18160674 View Article PubMed/NCBI Google Scholar 6. Chu ML, Conway D, Pan TC, Baldwin C, Mann K, Deutzmann R, et al.[journals.plos.org]

Epidemiology

  • 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]
  • Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden.[ncbi.nlm.nih.gov]
  • This study aims to analyze the phenotypes and genotypes of Taiwanese patients with CMD as the epidemiology of CMD varies among populations and has been scantly described in Asia.[journals.plos.org]
  • The epidemiology of CMD is not well known. Data from an epidemiological study in North-East Italy, considering the period 1979-1993, reported an incidence rate of 4.65 10(–5) and a prevalence rate of 6.8 10(–6) 3.[scielo.br]
  • The epidemiology of CMD is not well known. Data from an epidemiological study in North-East Italy, considering the period 1979-1993, reported an incidence rate of 4.65 x 10(-5) and a prevalence rate of 6.8 x 10(-6)3.[cyberleninka.org]
Sex distribution
Age distribution

Prevention

  • 脳性麻痺では、痙性四肢麻痺、ジスキネジアなどの神経症状がある場合、あるいは重症度が強い場合、他の神経学的異常を合併していることが多い Selective neuronal nitric oxide synthase inhibitors and the prevention of cerebral palsy. Ann Neurol. 2009 Feb 20.[treatneuro.com]
  • In Brazil, there is not a precise estimate about the frequency of Ullrich CMD, probably due to the lack of molecular studies that prevents a correct diagnosis in patients with CMD and distal joint laxity.[scielo.br]

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