Whether or not there is a structural brain abnormality present, children may experience seizure activity. Laminin is also present in peripheral nerves, leading to peripheral neuropathy. [disabled-world.com]

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]

The biopsied muscle from the left quadriceps femoris presented variation in size of the muscle fibers, mostly measuring 7-10 p or less in diameter, and mild endo- and perimysial fibrosis. [jstage.jst.go.jp]

• Cough

  A cough assist machine actually forces a child to breath in and out. (It’s quite similar to sucking on a vacuum.) Cognitively children with Ullrich are at the same or higher level. [mibba.com]

  Chest physiotherapy, breathing exercises (breath stacking techniques) and equipment such as a cough assist machine may also be necessary to help clear secretions from the lungs. [mda.org.au]

  […] respiratory infections Dry skin Congenital contracture Weak cry Overweight Gastrostomy tube feeding in infancy Lumbar scoliosis Abnormal elasticity of skin Hepatomegaly Hypertension Tics Fever Cardiomyopathy Apnea Abnormality of the cerebral white matter Cough [mendelian.co]

  Composed of 10 items, subdivided into 4 items, with scores ranging from 0 to 3, having these items as a way to evaluate from the ability to handle the wheelchair to the ability to remain in orthostatism and cough. [pepsic.bvsalud.org]

• Dyspnea

  External genital hypoplasia Infantile muscular hypotonia Camptodactyly of finger Pain Prominent superficial veins Sensory impairment Peroneal muscle atrophy Crackles Orthopnea Type 1 and type 2 muscle fiber minicore regions Milia Pes cavus Retrognathia Dyspnea [mendelian.co]

• Severe Short Stature

  severe classic form, multiminicore disease, severe classic form, desmin-related myopathy with mallory bodies, muscular dystrophy, congenital, eichsfeld type Related symptoms: Autosomal recessive inheritance Short stature Generalized hypotonia Pica Scoliosis [mendelian.co]

• 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]

  […] weight Weight faltering [ more ] 0001508 Feeding difficulties in infancy 0008872 Flexion contracture Flexed joint that cannot be straightened 0001371 Follicular hyperkeratosis 0007502 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperhidrosis [rarediseases.info.nih.gov]

  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]

  face Circular face Round facial appearance Round facial shape [ more ] 0000311 Slender build Thin build 0001533 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Type 1 muscle fiber predominance 0003803 Variable expressivity [rarediseases.info.nih.gov]

  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]

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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

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]

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]

[ edit ] The prognosis of this sub-type of MD indicates that the affected individual may eventually have feeding difficulties. [en.wikipedia.org]

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]

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]

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]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]

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 [ Links ] PARK, Y. et al. [pepsic.bvsalud.org]

This deletion removes the crucial cysteine, so that dimer formation cannot occur and the abnormal molecule is not secreted, preventing the strong dominant negative effect. [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]