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Congenital Muscular Dystrophy Type Ullrich

UCMD


Presentation

  • Here we present a case report of collagen VI related myopathy in a patient, 8 y.o. boy, with intermediate phenotype between severe Ullrich congenital muscular dystrophy and milder Bethlem myopathy.[ncbi.nlm.nih.gov]
  • We present the case of a nine-year-old with UCMD who required operative intervention for progressive scoliosis.[journals.co.za]
Rigor
  • Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity.[blueprintgenetics.com]
Long Arm
  • This disease is due to mutations in the COL6A1 genes, located on the long arm of chromosome 21 (21q22.3), COL6A2, located on the long arm of chromosome 21 (21q22.3) and COL6A3, located on the long arm of chromosome 2 (2q37).[ivami.com]
Hyperhidrosis
  • Additional clinical findings were onset in the neonatal period or early infancy, which included generalized muscle weakness, hyperhidrosis, high-arched palate, protruded calcanei, and normal intelligence.[medlink.com]
  • Lumbar scoliosis Abnormal elasticity of skin Hepatomegaly Hypertension Tics Fever Cardiomyopathy Apnea Abnormality of the cerebral white matter Cough Ventricular hypertrophy Hypoventilation Malignant hyperthermia Thoracolumbar scoliosis Nonprogressive Hyperhidrosis[mendelian.co]
Round Face
  • Some individuals with Ullrich CMD may have a distinctive facial appearance with a rounded face with prominent ears.[rarediseases.org]
  • - Less than 30% cases Arthrogryposis multiplex congenita Hypertonia Dysphagia Respiratory distress Nasal speech Heterogeneous Trophic changes related to pain Pectus carinatum Cleft palate Respiratory arrest Ranula Dental malocclusion Juvenile onset Round[mendelian.co]

Workup

  • Thus, proper recognition and delineation of clinical phenotypes remains the initial and most important step in initiating a workup that will ultimately establish a genetic diagnosis. Corresponding author and reprints: Carsten G.[jamanetwork.com]

Treatment

  • Management and treatment Currently, there is no curative therapy, but supportive treatment can dramatically improve the quality of life of patients with UCMD.[orpha.net]
  • A better knowledge of congenital muscular dystrophies will improve the number of correct diagnoses and open new horizons for the treatment of such diseases.[ncbi.nlm.nih.gov]
  • Muscular Dystrophy UK is currently funding research aiming to lay the foundations for a treatment for this condition.This research is investigating whether ‘molecular patches’, a technology in clinical trial as a treatment for other genetic muscle-wasting[musculardystrophyuk.org]

Prognosis

  • Genetic evaluation of UCMD patients has relevant implications for prognosis and genetic counseling of the family.[ncbi.nlm.nih.gov]
  • Prognosis UCMD is a severe progressive disorder. Most patients are unable to walk or manage to walk for only a short period of time, usually before puberty. Children can stand and walk with the aid of leg splints.[orpha.net]
  • Genetic counselling provides information on the inheritance pattern, risks to other family members, and the ‘prognosis’ (likely outcome of the disorder).[mda.org.au]

Etiology

  • Etiology UCMD is caused by mutations in the genes coding for the alpha chains of collagen VI ( COL6A1, COL6A2, and COL6A3 ) and is transmitted in an autosomal recessive manner.[orpha.net]
  • 結節性硬化症 Tuberous sclerosis complex (TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159.[cell.brc.riken.jp]
  • 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

  • Stickler syndrome type 1 Torg-Winchester syndrome Synonym(s): - Scleroatonic muscular dystrophy - UCMD - Ullrich disease Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • Summary Epidemiology Less than 50 molecularly confirmed cases have been reported worldwide.[orpha.net]
  • 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]
  • Fanin MDuggan DJMostacciuolo ML et al Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997;34:973-977. PubMed Google Scholar 98.[jamanetwork.com]
Sex distribution
Age distribution

Pathophysiology

  • Establishing the origin of collagen VI in muscle is important for understanding the pathophysiology of these diseases and for developing future treatment approaches involving cellspecific delivery.[moh-it.pure.elsevier.com]
  • Establishing the origin of collagen VI in muscle is important for understanding the pathophysiology of these diseases and for developing future treatment approaches involving cell-specific delivery.[ncbi.nlm.nih.gov]
  • 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]
  • Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. Journal of Proteome Research , v. 13, n. 11, p. 5022-5030, Sept. 2014. doi: 10.1021/pr500675e PARK, Y. et al.[pepsic.bvsalud.org]

Prevention

  • The R876S mutation prevented the chain from assembling into triple-helical collagen VI molecules.[ncbi.nlm.nih.gov]
  • In mice, heterozygous deletion of exon 16 of Col6a3 resulted in production of both normal and mutant Col6a3 mRNA, which prevented assembly of collagen microfibrils and mimicked the human condition.[nature.com]
  • Feeding by gastrostomy, surgical release of the contractures and surgery to prevent progression of scoliosis may be needed. It has recently been shown that UCMD patients may benefit from cyclosporin A.[orpha.net]

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