This study aimed to identify the genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. [ncbi.nlm.nih.gov]

This mutation has already been reported to be associated with MSM presenting as neonatal hypotony. Our index case complained of proximal muscle weakness at age 30. [hal.inserm.fr]

The latter is of particular interest in the present context. [books.google.de]

Early weakness of neck flexion is present in all patients. Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. [orpha.net]

• Respiratory Insufficiency

  insufficiency ; Scapuloperoneal amyotrophy ; Scapuloperoneal weakness ; Scoliosis ; Slow progression ; Type 1 muscle fiber predominance Associated Genes MYH7 (Withdrawn symbols: CMD1S, CMH1, MPD1 ) Mouse Orthologs Myh7 (Withdrawn symbols: Myhc-b, Myhcb [mousephenotype.org]

  Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. [genome.jp]

  insufficiency Respiratory impairment 0002093 Scapular winging Winged shoulder blade 0003691 Scapuloperoneal amyotrophy 0003697 Scapuloperoneal weakness 0003704 Slow progression Signs and symptoms worsen slowly with time 0003677 Type 1 muscle fiber predominance [rarediseases.info.nih.gov]

  Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency ( 6 ). [pnas.org]

  Other symptoms associated with myopathies may include muscle cramps, stiffness, and/or spasms, joint contractures, and respiratory insufficiency. [invitae.com]

• High Arched Palate

  They also did not present with high arched palate, tremors, sensory disturbances, contractures of joints, respiratory failures or obvious cardiac failures. Their intelligence was normal. [nature.com]

• Proximal Muscle Weakness

  Our index case complained of proximal muscle weakness at age 30. Her daughter presented at birth with a cardiomyopathy without any skeletal muscle involvement. [ncbi.nlm.nih.gov]

  It is characterised by the presence of subsarcolemmal hyaline bodies in type I muscle fibres and predominantly proximal muscle weakness. [plu.mx]

• Flushing

  Circular dichroism (CD) was measured using a Jasco J-810 spectropolarimeter (Jasco) with constant N 2 flushing. A Peltier temperature control device was used to perform all measurements at 4 C and a rectangular 1-mm path length cell was used. [pnas.org]

• Withdrawn

  […] symbols: CMD1S, CMH1, MPD1 ) Mouse Orthologs Myh7 (Withdrawn symbols: Myhc-b, Myhcb ) Source OMIM:255160 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse [mousephenotype.org]

• Myopathic Facies

  facies ; Respiratory insufficiency ; Scapuloperoneal amyotrophy ; Scapuloperoneal weakness ; Scoliosis ; Slow progression ; Type 1 muscle fiber predominance Associated Genes MYH7 (Withdrawn symbols: CMD1S, CMH1, MPD1 ) Mouse Orthologs Myh7 (Withdrawn [mousephenotype.org]

  As a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems. 0000218 Myopathic facies 0002058 Scoliosis Abnormal curving [rarediseases.info.nih.gov]

• Waddling Gait

  gait 'Waddling' gait Waddling walk [ more ] 0002515 Showing of 24 Last updated: 12/1/2018 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

  Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. [ghr.nlm.nih.gov]

• Creatine Phosphokinase Increased

  phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 EMG: myopathic abnormalities 0003458 Generalized limb muscle atrophy Generalized muscle wasting 0009055 Generalized muscle weakness [rarediseases.info.nih.gov]

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]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.de]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

This is vital to direct future research into potential treatments. Importantly, there are currently no animal models of these congenital myopathies. [musculardystrophyuk.org]

Prognosis Life expectancy is normal. The documents contained in this web site are presented for information purposes only. [orpha.net]

[…] molecular and imaging level, myopathies due to MYH7 gene mutations, MYH7 gene analysis was conducted by RT-PCR/SSCP/sequencing in two patients diagnosed with myosin storage myopathy and 17 patients diagnosed with scapulo-peroneal myopathy of unknown etiology [ncbi.nlm.nih.gov]

Etiology It is caused by mutation of the MYH7 gene (14q11) that encodes the myosin heavy chain of type 1 fibers of skeletal muscle and cardiac ventricles (mutations have been identified in approximately 50% of individuals with MPD1). [orpha.net]

Discovery of markers that represent etiological determinants of cardiac disease require a shift of focus towards the signaling proteome. Therefore, a protein -class centered quantitative analysis of kinases, phosphatases and GTPases was adopted. [pubs.rsc.org]

Unlikely the other, more frequent forms of congenital myopathy, our findings also propose a progressive nature of MYH7 -related myopathies, and a striking difficulty in targeting the underlying molecular etiology. [ojrd.biomedcentral.com]

Summary Epidemiology MPD1 is rare, the prevalence is unknown. Clinical description Age at onset varies from 4 to 5 years to the early twenties. [orpha.net]

Association Scientific Statement From the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology [blueprintgenetics.com]

Pathophysiology [ edit ] Skeletal muscle, with myofibrils labeled at upper right and sarcoplasmic reticulum at bottom Muscle contraction begins with the brain setting off action potentials, which are waves in the electrical charges that extend along neurons [en.wikipedia.org]

School of Medicine, Kobe, Japan Tetsuya Oda, Kazuhiro Kobayashi, Wataru Satake, Pei-Chieng Cha & Tatsushi Toda Department of Pediatrics, Peking University First Hospital, Beijing, China Hui Xiong, Shuo Wang, Hui Jiao, Yanling Yang & Xiru Wu Department of Pathophysiology [nature.com]

A lack of sodium would prevent the sodium gradient from being strong enough to power the calcium pumps; the calcium ions would remain in the myofibrils, forcing the muscle to stay contracted and causing a cramp. [en.wikipedia.org]

Prevention of genetic disease Preconception carrier screening has proven in the past to be extremely effective in reducing the incidence of severe genetic disease. [perkins.org.au]

The NNT to prevent remedication was 5.6 (4.0 to 9.0) for 600 mg paracetamol plus 60 mg codeine over four to six hours. [ndcn.ox.ac.uk]

All experiments were performed in the same high salt buffer as for far-UV CD to prevent protein assembly, and were done at 4 C. Observed θ 222 data (black) were fit to a theoretical melting curve (light gray), and are plotted on the left axis. [pnas.org]

Statement From the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention [blueprintgenetics.com]