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]

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]

[…] be present as well. [ipfs.io]

• Congestive Heart Failure

  […] the body and resulting in fluid buildup in the heart, lung, and various body tissues (congestive heart failure). [rarediseases.org]

• Pneumonia

  Aspiration pneumonia and/or respiratory insufficiency may require assisted cough devices, supplemental oxygen, noninvasive ventilation, and/or mechanical ventilation via tracheostomy. [ncbi.nlm.nih.gov]

• Nausea

  […] of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation, chest pain, dyspnea assessed by a validated breathing assessment, vomiting and nausea [clinicaltrials.gov]

• Vomiting

  […] including rates of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation, chest pain, dyspnea assessed by a validated breathing assessment, vomiting [clinicaltrials.gov]

• Hypertension

  In 2010, Germanyeh et al. [ 11 ] reported 5 patients with absent laminin α2 staining and cardiac abnormalities including mitral regurgitation, pulmonary hypertension, palpitations and wall motion hypokinesia on echocardiogram ( Table 2 ). [content.iospress.com]

  […] occupational therapist and physical therapist Assessment of cardiac function in those with a dystroglycanopathy or L-CMD, with particular awareness that cardiomyopathy and/or arrhythmia can occur in the absence of severe muscle disease Evaluation for pulmonary hypertension [ncbi.nlm.nih.gov]

• Torticollis

  Another 11-year-old girl was diagnosed at 2 months of age with congenital dislocation of the hip and torticollis, which required surgical intervention. She acquired independent ambulation at 2 years, but Gowers’ sign and waddling gait were observed. [link.springer.com]

  Reported symptoms include proximal weakness, congenital torticollis, congenital hip dislocation, multiple joint contractures, and motor delays characteristic of a congenital myopathy. [egl-eurofins.com]

  In some cases, congenital dislocation of the hip, muscles spasms of the neck (torticollis), or lower bone density may develop. Affected individuals may also experience breathing (respiratory) difficulties and failure to thrive. [rarediseases.org]

  Associated features including developmental dysplasia of the hip (DDH), torticollis and keloid are also often observed. [journals.plos.org]

  […] late-stage L-CMD and dystroglycanopathies Selective involvement of the spine: SELENON -related CMD; early in the course of laminin alpha-2 deficiency in children who are ambulatory; collagen VI-deficient CMD; L-CMD The presence of joint deformities, torticollis [ncbi.nlm.nih.gov]

• Fracture

  Movement (REM) sleep apnea hypopnea index and mean oxygen saturation during REM and total sleep study, age, gender, type of treatment center location (national referral center, tertiary care hospital, community hospital), gastrostomy tube, total number of fractures [clinicaltrials.gov]

  He experienced a femur fracture at 16 years which led to a worsening of lower limb muscle weakness. He was wheelchair dependent at 27 years although he could walk 5 meters at his last assessment at 32 years old. [content.iospress.com]

• Myalgia

  […] with or without Rhabdomyolysis) Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Congenital Fiber Type Disproportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis [who.int]

  […] weakness distribution Joint Contractures Fatty involvements on muscle imaging Epilepsy (age at onset)/ Treatment Brain imaging Cardiac involvement / Last LVEF (% Last measured FVC (%) Other features LAMA2 mutation (Status, acid changes) 1 38 Calves myalgia [content.iospress.com]

↑ "Congenital Muscular Dystrophy Workup: Laboratory Studies, Imaging Studies, Other Tests". emedicine.medscape.com. Retrieved 2016-04-28. 1 2 "Congenital muscular dystrophy". Guidelines American Academy of Neurology. 2015. Retrieved 28 April 2016. [ipfs.io]

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]

There is currently no treatment for these conditions; though optimizing and standardizing care and care delivery can promote significant gains in quality of life and survival. [clinicaltrials.gov]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.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]

To date, data for all CMD subtypes are insufficient to make any firm genotype / phenotype correlations or to provide definitive prognosis or anticipatory guidance based on CMD subtype. [ncbi.nlm.nih.gov]

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]

Performing clinical and molecular diagnosis is extremely important for genetic counseling, prognosis, and anticipatory treatment and also for prospective treatment. [ijponline.biomedcentral.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]

Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology. Am J Pathol. 2002;160(6):2135–43. [link.springer.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]

Clinical diagnosis of infantile hypotonia is particularly difficult considering the different etiologic factors causing the lesions, the difficulty in localizing the involved CNS area (central vs. peripheral) and the limited role of the diagnostic procedures [ijponline.biomedcentral.com]

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 x 10(-5) and a prevalence rate of 6.8 x 10(-6)3. [cyberleninka.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]

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]

Chromosome 21, a land of fascinating disorders with unknown pathophysiology. Chromosome 21, from sequence to applications, disease genes and chromosomes, disease maps of the human genome. The DNA sequence of human chromosome 21, sawinska M, Ladon D. [wikivisually.com]

Congenital muscular dystrophy affects the integrin alpha 7 gene and prevents the muscle cell from producing the affiliated protein. [digitalcommons.library.umaine.edu]

[…] such as laxatives to prevent constipation, medication for gastroesophageal reflux (GER), and oral caloric supplements as required Trunk bracing in those with severe axial or cervical hypotonia with spinal collapse to prevent severe spinal deformities [ncbi.nlm.nih.gov]

However, physiotherapic treatment is advisable to prevent joints deformity, muscles retractions, and scoliosis. [ijponline.biomedcentral.com]

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. [cyberleninka.org]