Dystrophy typeMyopathyMyotonia AtrophicaMuscularCongenitalProximalWeaknessDisordersSymptomsMolecularSkeletalChildhoodMuscleSyndromeProteinExerciseHeartLifeMyotoniaCongenital myotonicCardiac HypertrophyMuscular hypertrophyDiastolic dysfunctionAbnormalitiesCalfOnsetAutosomal dominantAbnormalDuchennePseudohypertrophyMicePatientsDiseaseEnlargementCommon
Dystrophy type4
- Skeletal muscles from human patients diagnosed with myotonic dystrophy type 1 (DM1) display reduced Mytho expression, activation of the mTORC1 signaling pathway and impaired autophagy, raising the possibility that low Mytho expression might contribute to the progression of the disease. (uqam.ca)
- There are two major forms recognized based on clinical and molecular presentation: Myotonic dystrophy type I (DM1), known as Steinert disease, and myotonic dystrophy type II (DM2), or proximal myotonic myopathy which is a milder variety of DMI. (rxharun.com)
- Myotonic Dystrophy Type II - DM2 typically manifests in adulthood (median age 48 years) and has a variable presentation. (rxharun.com)
- Myotonic Dystrophy Type 1, also known as Steinert Disease and Type 2, a milder form of DM1, are multisystem disorders caused by autosomal dominant inheritance. (klarity.health)
Myopathy2
- Also known as Debré-Semelaigne syndrome or cretinism-muscular hypertrophy, hypothyroid myopathy, hypothyroidism-large muscle syndrome, hypothyreotic muscular hypertrophy in children, infantile myxoedema-muscular hypertrophy, myopathy-myxoedema syndrome, myxoedema-muscular hypertrophy syndrome, myxoedema-myotonic dystrophy syndrome. (wikipedia.org)
- Myotonic dystrophy (DM) is considered a subgroup of myopathy and the most common type of muscular dystrophy that begins in adulthood. (rxharun.com)
Myotonia Atrophica1
- Myotonia Atrophica / Myotonic dystrophy is characterized by progressive multisystem genetic impairment in relaxation of muscles after voluntary contraction due to repetitive depolarization of the muscle membrane disorders muscle wasting and weakness. (rxharun.com)
Muscular3
- Kocher-Debré-Semelaigne syndrome (KDSS) is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy (Herculean appearance), myxoedema, short stature, and cognitive impairment. (wikipedia.org)
- Muscular hypertrophy is common and myotonia may impair ambulation and other movements. (nih.gov)
- Myotonic dystrophy (DM), the most common adult-onset muscular dystrophy, is a genetic condition characterized by a wasting of skeletal muscle and heart defects, such as arrhythmia. (rna-seqblog.com)
Congenital3
- Congenital myotonic dystrophy Myotonic dystrophy is rare, autosomal dominant muscle disorder. (msdmanuals.com)
- Congenital Myotonic Dystrophy (CDM) - The congenital form presents in about 15% of cases, with fetal-onset involvement of muscle and the CNS, and typically is seen in those with more than 1,000 repeats. (rxharun.com)
- Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. (symptoma.com)
Proximal1
- LGMDIC is characterized by an onset usually in the first decade, a mild-to-moderate proximal muscle weakness , calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. (symptoma.com)
Weakness2
- Mild Myotonic Dystrophy - The mild form of DM1 or the oligosymptomatic form is associated with mild weakness, myotonia, and cataracts that begin between 20 to 70 years (typically after age 40 years). (rxharun.com)
- Patients with non-dystrophic myotonia typically present with stiffness without weakness or muscle wasting, in contrast to dystrophic myotonic dystrophies (see Ch. 14 ). (musculoskeletalkey.com)
Disorders2
- Inherited myotonic disorders with early childhood onset MYOTONIA . (nih.gov)
- Dr. Caskey discovered 34 disease genes including the understanding of triplet repeat disorders (Fragile X & Myotonic Dystrophy). (metabolomicsconference.com)
Symptoms2
- The muscle hypertrophy and other symptoms are reversible on treatment with levothyroxine. (wikipedia.org)
- Myotonic symptoms lessen with age but do not disappear, and they are most noticeable after a period of rest. (msdmanuals.com)
Molecular1
- Researchers from the CNRS have discovered the molecular mechanisms responsible for the heart dysfunctions that mark myotonic dystrophy, and reported they appear to be linked to a defective processing of the cardiac sodium channel (SCN5A) RNA. (rna-seqblog.com)
Skeletal1
- Patients typically have hypertrophy of the skeletal muscles due to the sustained muscle activity and the increased muscle bulk gives them an "athletic" appearance. (msdmanuals.com)
Childhood3
- Myotonia congenita is an inherited disorder causing muscle stiffness and hypertrophy beginning during childhood. (msdmanuals.com)
- In Thomsen disease, onset is in infancy or early childhood and begins in the upper limbs and face, whereas in Becker disease it begins later in childhood in the lower limbs, and has more pronounced muscle hypertrophy. (msdmanuals.com)
- Childhood Myotonic Dystrophy - The childhood (infantile) subset of DM1 typically presents around age 10. (rxharun.com)
Muscle4
- citation needed] Along with features of hypothyroidism (such as lethargy, slow heart rate, cold intolerance, dry skin, and hoarse voice) the main additional feature is muscle hypertrophy. (wikipedia.org)
- The assumed cause of muscle hypertrophy in KDSS is an abnormal metabolism of carbohydrates leading to increased glycogen accumulation and increased mucopolysaccharide deposits in the muscles. (wikipedia.org)
- A common sign of Thomsen's disease is muscle hypertrophy after a series of muscle stiffness. (klarity.health)
- Loss of muscle fibers is furthermore compensated through hypertrophy of the remaining muscle fibers 3 . (bvsalud.org)
Syndrome1
- Experts now think that he had an entirely different condition called Proteus syndrome, which involves massive overgrowth and hypertrophy, hyperostoses, and lipomas. (medicalhomeportal.org)
Protein1
- Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. (uniud.it)
Exercise1
- Myotonia, due to myotonic dystrophy, improves with repeated exercise and is worsened by exposure to cold. (rxharun.com)
Heart2
- Their study, published in Nature Communications , is titled " Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhytmia in myotonic dystrophy . (rna-seqblog.com)
- 2016) Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy . (rna-seqblog.com)
Life1
- Classic Myotonic Dystrophy - The classic form of DM1 usually manifests during 2, 3, or 4 decades of life. (rxharun.com)
Myotonia5
- Myotonia congenita is an inherited disorder causing muscle stiffness and hypertrophy beginning during childhood. (msdmanuals.com)
- Inherited myotonic disorders with early childhood onset MYOTONIA . (bvsalud.org)
- Muscular hypertrophy is common and myotonia may impair ambulation and other movements. (bvsalud.org)
- A rare genetic myotonic syndrome characterised by childhood onset of progressive and severe myotonia (with generalised muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. (cdc.gov)
- Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. (ucr.ac.cr)
Congenital myotonic3
- Congenital myotonic dystrophy usually presents in the neonatal period as a congenital myopathy, with one or more of the following features: facial diplegia, hypotonia, respiratory problems, talipes, and delayed motor development. (bmj.com)
- Congenital myotonic dystrophy Myotonic dystrophy is rare, autosomal dominant muscle disorder. (msdmanuals.com)
- Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. (symptoma.com)
Cardiac Hypertrophy1
- Secondary structures that regulate mRNA translation provide insights for ASO-mediated modulation of cardiac hypertrophy. (rochester.edu)
Muscular hypertrophy2
- Kocher-Debré-Semelaigne syndrome (KDSS) is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy (Herculean appearance), myxoedema, short stature, and cognitive impairment. (wikipedia.org)
- Also known as Debré-Semelaigne syndrome or cretinism-muscular hypertrophy, hypothyroid myopathy, hypothyroidism-large muscle syndrome, hypothyreotic muscular hypertrophy in children, infantile myxoedema-muscular hypertrophy, myopathy-myxoedema syndrome, myxoedema-muscular hypertrophy syndrome, myxoedema-myotonic dystrophy syndrome. (wikipedia.org)
Diastolic dysfunction1
- CONCLUSIONS Young patients with myotonic dystrophy have myocardial diastolic dysfunction as well as abnormal electrophysiology. (bmj.com)
Abnormalities2
- OBJECTIVE Examination of left ventricular function and conduction abnormalities in myotonic dystrophy. (bmj.com)
- Whereas the abnormalities seen on 12-lead ECG are not specific for HCM, findings such as localized or widespread repolarization changes (including T-wave inversions), prominent precordial voltages and left axis deviation (suggestive of ventricular hypertrophy), P-wave abnormalities (suggestive of left atrial enlargement), and inferior and/or lateral Q waves (suggestive of hypertrophied septal depolarization) should raise suspicion for the disorder. (medscape.com)
Calf2
- In a subset of individuals, calf hypertrophy in combination with brisk reflexes is notable. (nih.gov)
- LGMDIC is characterized by an onset usually in the first decade, a mild-to-moderate proximal muscle weakness , calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. (symptoma.com)
Onset1
- In Thomsen disease, onset is in infancy or early childhood and begins in the upper limbs and face, whereas in Becker disease it begins later in childhood in the lower limbs, and has more pronounced muscle hypertrophy. (msdmanuals.com)
Autosomal dominant1
- Myotonic dystrophy is inherited as an autosomal dominant condition, which is particularly severe when the mother is the transmitting parent, 2 but it may not be diagnosed until later in childhood or, in its milder forms, in adult life. (bmj.com)
Abnormal1
- The assumed cause of muscle hypertrophy in KDSS is an abnormal metabolism of carbohydrates leading to increased glycogen accumulation and increased mucopolysaccharide deposits in the muscles. (wikipedia.org)
Duchenne1
- [9] FSHD affects up to 1 in 8,333 people, [2] putting it in the three most common muscular dystrophies with myotonic dystrophy and Duchenne muscular dystrophy . (mdwiki.org)
Pseudohypertrophy1
- In dystrophy, however, the enlarged muscles are weak, and their enlargement has therefore been referred to as pseudohypertrophy Opens in new window (which means false hypertrophy). (viquepedia.com)
Mice1
- Through breeding ADR myotonic mice with mice harboring a MEF2-dependent reporter gene, we found that the transcriptional activity of MEF2 was dramatically enhanced in myotonic muscles. (jci.org)
Patients2
- DESIGN Twelve patients (median age, 13.7 years) with myotonic dystrophy had detailed electrocardiography and echocardiography performed. (bmj.com)
- and 2) patients with known HCM for whom additional information regarding magnitude and distribution of hypertrophy or anatomy of the mitral valve apparatus would be helpful in decision making regarding septal reduction therapy. (medscape.com)
Disease1
- 7) Myotonic muscular dystrophy (also known as Steinert's disease and dystrophia myotonica) is the second most prominent form of muscular dystrophy and the type most commonly found in adults. (nih.gov)
Enlargement1
- These adaptations include hypertrophy (enlargement of individual cells), hyperplasia (increase in cell number), atrophy (reduction in size and cell number), metaplasia (transformation from one type of epithelium to another), and dysplasia (disordered growth of cells). (amboss.com)
Common1
- The basal septum is the most common location for hypertrophy, and multiple other patterns of asymmetric hypertrophy (reverse septal curvature, sigmoid septum, neutral septum, midventricular, apical) are also seen. (medscape.com)