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3,352 Possible Causes for 1B,, DYSTROPHY,, GLN493TER, LIMB GIRDLE,, MUSCULAR, TYPE

  • Limb-Girdle Muscular Dystrophy

    "Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?" .[en.wikipedia.org] Abstract BACKGROUND: Cardioembolic stroke is an under-recognized complication in patients with limb-girdle muscular dystrophy 1B.[ncbi.nlm.nih.gov] Cardiac arrhythmias are mostly seen in LGMD 1B and 1E types of muscle dystrophy.[symptoma.com] […] imaging Publication type, MeSH terms, Substances, Supplementary concept Publication type Research Support, Non-U.S.[ncbi.nlm.nih.gov] Abstract Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy,[ncbi.nlm.nih.gov] We now report another rare case of partial epilepsy and limb-girdle muscular dystrophy type 1B with lamin A/C gene mutation.[ncbi.nlm.nih.gov]

    Missing: GLN493TER
  • Congenital Muscular Dystrophy

    We have re-examined six patients and found permanent limb-girdle weakness, but also episodic crises without clear precipitating factors.[ncbi.nlm.nih.gov] […] diseases, termed laminopathies, consisting of more than 15 phenotypes, including autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B[ncbi.nlm.nih.gov] Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases .[en.wikipedia.org] […] production of fukutin, a type of protein.[dovemed.com] AR 47 99 SGCB Muscular dystrophy, limb-girdle AR 29 62 SGCD Muscular dystrophy, limb-girdle, Dilated cardiomyopathy (DCM) AR 13 26 SGCG Muscular dystrophy, limb-girdle AR[blueprintgenetics.com] Certain types of CMD, such as CMD type 1B, could not yet be related to specific mutations and even if modern molecular biological techniques are applied, some patients still[symptoma.com]

    Missing: GLN493TER
  • Emery-Dreifuss Muscular Dystrophy

    A 41-yr-old female had contractures of both ankles and limb-girdle type muscular dystrophy. ECG revealed atrial tachycardia with high grade AV block.[ncbi.nlm.nih.gov] BACKGROUND: Skeletal muscle disorders associated with mutations of lamin A/C gene include autosomal Emery-Dreifuss muscular dystrophy and limb girdle muscular dystrophy 1B[ncbi.nlm.nih.gov] There are many different types of muscular dystrophy (MD). All types cause muscle weakness, but the areas affected and the severity of the symptoms are different.[nhs.uk] Similarly, normal expression of alpha-sarcoglycan made a limb-girdle muscular dystrophy caused by a defect in a sarcoglycan unlikely.[ncbi.nlm.nih.gov] Emery–Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as skeletal muscles and also affects the cardiac muscle, it is named after[en.wikipedia.org] […] striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B[ncbi.nlm.nih.gov]

    Missing: GLN493TER
  • Facioscapulohumeral Muscular Dystrophy

    It is important that healthcare professionals should always be open to the possibility of a genetic diagnosis even if there is no family history, as in Ben’s case (GP-1b).[tellingstories.nhs.uk] KEYWORDS: Facioscapulohumeral muscular dystrophy; Medication adherence; Muscular dystrophy; Myotonic dystrophy[ncbi.nlm.nih.gov] Dystrophies*/genetics Muscular Dystrophies*/metabolism Muscular Dystrophies*/pathology Muscular Dystrophies*/therapy Mutation Repetitive Sequences, Nucleic Acid Substances[ncbi.nlm.nih.gov] […] whether these miR-1, miR-133a, and miR-206 can be used as powerful biomarkers using the serum from muscular dystrophy patients including DMD, myotonic dystrophy 1 (DM1), limb-girdle[ncbi.nlm.nih.gov] KEYWORDS: 4q35 deletion; early-onset facioscapulohumeral muscular dystrophy; infantile facioscapulohumeral muscular dystrophy Publication type, MeSH terms Publication type[ncbi.nlm.nih.gov] Autosomal dominant forms are classified as LGMD 1A, -1B, -1C, and so on, and recessive forms are classified as LGMD 2A, -2B, -2C, and so on.[merckmanuals.com]

    Missing: GLN493TER
  • Muscular Dystrophy

    Lipodistrofia congénita generalizada tipo II Lipofuscinosis neuronal ceroidea Lisencefalia tipo I Lisencefalia tipo II Loeys-Dietz tipo 1A y 2A, Síndrome Loeys-Dietz tipo 1B[progenie-molecular.com] Muscular dystrophy (MD) is of different types.[symptoma.com] Eventually, muscle weakness affects the muscles of the upper arms and shoulders (limb-girdle area).[rarediseases.org] Myotonia is exclusive to this type of muscular dystrophy.[healthline.com] Recesiva #602722 Aciduria 2-hidroxiglutárica #600721 Aciduria Fumárica #606812 Aciduria Glutárica tipo 1 #231670 Aciduria orótica hereditaria 258900 Acondrogénesis Tipo 1b[medicina-genomica.blogspot.com] girdle muscular dystrophy, and dilated cardiomyopathy.[ncbi.nlm.nih.gov]

    Missing: GLN493TER
  • Oculopharyngeal Muscular Dystrophy

    It was difficult to compare the severity of the limb girdle weakness of Dutch patients with other patients because of the lack of data related to quantification of limb girdle[ncbi.nlm.nih.gov] […] progressive form of muscular dystrophy affecting the proximal limb muscles but sparing the face. (159000) type ib (lgmd1b) synonym: proximal limb-girdle muscular dystrophy type 1b[icd10data.com] Oculopharyngeal muscular dystrophy ( OPMD ) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old.[en.wikipedia.org] We have analysed 86 OPMD patients with a PABPN1 gene expansion, including three compound heterozygotes, and have identified 13 different types of expansion mutation, six of[ncbi.nlm.nih.gov] There are many different types of muscular dystrophy (MD). All types cause muscle weakness, but the areas affected and the severity of the symptoms are different.[nhs.uk] Furthermore we confirmed that limb girdle weakness occurs frequently in Dutch OPMD patients.[ncbi.nlm.nih.gov]

    Missing: GLN493TER
  • Facioscapulohumeral Dystrophy

    In 16 patients with limb-girdle and facioscapulohumeral dystrophy, sialic acid and galactose concentrations did not differ from matched controls.[ncbi.nlm.nih.gov] --Marie-Tooth tip Boala Charcot 1B.--Marie-Tooth boala neuronale type.- Charcot- Marie-Tooth tip Boala Charcot 4A.[euro-libris.ro] (FSHD) is the third most common inherited muscular dystrophy after Duchenne dystrophy and myotonic dystrophy.[ncbi.nlm.nih.gov] OBJECTIVE: To investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1[ncbi.nlm.nih.gov] The video features Martyn Blenkharn, from Morecambe who has facioscapulohumeral muscular dystrophy.[musculardystrophyuk.org] […] were (1) to provide insight into the natural course of upper-extremity (UE) impairments and UE activity limitations associated with facioscapulohumeral dystrophy (FSHD) and limb-girdle[ncbi.nlm.nih.gov]

    Missing: GLN493TER
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A

    […] atrophy and weakness of proximal limb and girdle muscles.[ncbi.nlm.nih.gov] For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B.[patient.info] Abstract Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated.[ncbi.nlm.nih.gov] 2A This depends upon the type.[checkorphan.org] How common is limb-girdle muscular dystrophy type 2A?[geneaware.clinical.bcm.edu] […] lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B[en.wikipedia.org]

    Missing: GLN493TER
  • Monilethrix

    […] lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B[en.wikipedia.org] […] linked to the type II keratin cluster on 12q, where genes for basic trichocyte keratins are found.[ncbi.nlm.nih.gov] […] that this site represents a mutational hotspot in these highly related type II hair keratins.[ncbi.nlm.nih.gov] Abstract Monilethrix is an hereditary hair dystrophy recently shown to be due to mutations in the helix termination motif of two type II (basic) human hair keratin genes,[ncbi.nlm.nih.gov] […] linkage from the type I keratin gene cluster on 17q.[ncbi.nlm.nih.gov] Abstract Monilethrix is an inherited hair dystrophy in which affected, fragile, hairs have an unique beaded morphology.[ncbi.nlm.nih.gov]

    Missing: GLN493TER
  • Becker Muscular Dystrophy

    […] whether a linear relationship between muscle strength and cross-sectional area (CSA) is preserved in calf muscles of patients with Becker muscular dystrophy (BMD, n   14) and limb-girdle[ncbi.nlm.nih.gov] Becker muscular dystrophy and Duchenne muscular dystrophy are both caused due to a mutated dystrophin gene.[symptoma.com] In its later stages, limb-girdle muscular dystrophy can cause serious heart problems.[webmd.com] ., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA).[ncbi.nlm.nih.gov] Differential diagnosis Differential diagnosis includes the limb girdle muscular dystrophies, Duchenne muscular dystrophy, malignant hyperthermia and metabolic muscle diseases[orpha.net] There are many different types of muscular dystrophy (MD). All types cause muscle weakness, but the areas affected and the severity of the symptoms are different.[nhs.uk]

    Missing: 1B GLN493TER