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Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1H

Muscular Dystrophy Limb Girdle Type 1H


Presentation

  • Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis.[books.google.it]
  • Central nuclei were occasionally present.[doi.org]
  • Earlier onset of the disease was observed in a group of patients presenting with muscle weakness and/or calf hypertrophy, and/or occasionally high CK and lactate serum levels.[moh-it.pure.elsevier.com]
  • The main goal of the present project is to perform a clinical and genetic study aimed to identify the causing genetic defect of a novel form of limb-girdle muscular dystrophies autosomal dominantly transmitted, LGMD1H.[telethon.it]
  • Earlier onset of the disease was found in a group of patients presenting with muscle weakness and/or calf hypertrophy and/or occasionally high CK and lactate serum levels.[hal.archives-ouvertes.fr]
Chills
  • The specimens from the deltoid or vastus lateralis muscle were oriented, snap-frozen in liquid nitrogen-chilled isopentane, and cryostat-cut sections were stained using standard histochemical methods.[doi.org]
Thrombosis
  • Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis[books.google.com]
Calf Hypertrophy
  • NA 160 18.2 Calf hypertrophy Headache III:8 22 22 F NA NA 155 38.7 Calf hypertrophy IV:1 17 17 F NA NA 67 11.6 Calf hypertrophy IV:2 16 16 F NA NA 98 11.3 Calf hypertrophy Unaffected II:11 45 — M NA NA 62 8.2 Normal III:1 30 — M NA NA 185 10.9 Normal[ncbi.nlm.nih.gov]
  • Earlier onset of the disease was observed in a group of patients presenting with muscle weakness and/or calf hypertrophy, and/or occasionally high CK and lactate serum levels.[moh-it.pure.elsevier.com]
  • Earlier onset of the disease was found in a group of patients presenting with muscle weakness and/or calf hypertrophy and/or occasionally high CK and lactate serum levels.[hal.archives-ouvertes.fr]
Short Arm
  • Figure 3 Diagrammatic representation of the region 3p22–p25.3. ( a ) Schematic map of the short arm of the chromosome 3 showing markers and genes of interest located between 11 and 42 Mb. ( b ) Multipoint LOD scores between the disease and markers on[doi.org]
  • Diagrammatic representation of the region 3p22–p25.3. ( a ) Schematic map of the short arm of the chromosome 3 showing markers and genes of interest located between 11 and 42 Mb. ( b ) Multipoint LOD scores between the disease and markers on chromosome[ncbi.nlm.nih.gov]
Hypertrophy of Calf Muscles
  • Affected individuals may also develop overgrowth (hypertrophy) of calf muscles and mild contractures of the elbows or Achilles tendon.[rarediseases.org]
Encephalopathy
  • Metabolic Disorders of the White Matter E-1690 100 Acquired Disorders Affecting the White Matter E-1725 101 Disorders of Consciousness in Children E-1741 102 Traumatic Brain Injury in Children E-1774 103 Abusive Head Trauma E-1821 104 HypoxicIschemic Encephalopathy[books.google.com]
  • Encephalopathy, Early Infantile, 19 1 Epileptic Encephalopathy, Early Infantile, 2 8 Epileptic Encephalopathy, Early Infantile, 21 1 Epileptic Encephalopathy, Early Infantile, 23 1 Epileptic Encephalopathy, Early Infantile, 24 5 Epileptic Encephalopathy[preventiongenetics.com]
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1 Is also known as mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related, mngie, tymp-related, myoneurogastrointestinal encephalopathy syndrome, polyneuropathy, ophthalmoplegia[mendelian.co]
  • Glycerol kinase deficiency Glycerol kinase deficiency, adult form Glycerol kinase deficiency-contiguous gene syndrome Glycerol kinase deficiency, infantile form Glycerol kinase deficiency, juvenile form Glycine cleavage system L protein deficiency Glycine encephalopathy[orpha.net]
Neurologic Manifestation
  • Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric[books.google.com]
Hyporeflexia
  • […] inheritance Adult onset Skeletal muscle atrophy Areflexia Dysphagia Limb muscle weakness Trophic changes related to pain Autophagic vacuoles Centrally nucleated skeletal muscle fibers Pica Peripheral neuropathy Distal muscle weakness Flexion contracture Hyporeflexia[mendelian.co]
Headache
  • […] and laboratory data in family members Patient Age at diagnosis Age at onset Sex Biopsy a EMG CK level (U/l) Lactate level (mg/100 ml) Neuromuscular examination Other symptoms Severely affected I:1 b Dead at 77 years — M NA NA NA NA Calf hypertrophy Headache[ncbi.nlm.nih.gov]

Treatment

  • 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.it]
  • He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy.[books.google.de]
  • Victor Dubowitz, who skillfully guides you through the complexities of pathologic diagnoses and their implications for clinical treatment.[books.google.it]
  • Several rare forms are inherited in an autosomal dominant pattern. [2] While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. [3] There are at least[rarediseases.info.nih.gov]
  • Magnetic resonance imaging (MRI), perioral skin biopsies, blood-based assays, reverse-protein arrays, proteomic analyses, gene chips and next generation sequencing are the leading diagnostic techniques for LGMD and gene, cell and pharmaceutical treatments[scinapse.io]

Prognosis

  • During her course, she did not show any improvement in her clinical status and was declared by multidisciplinary team specialist to have grave prognosis. Her family decided to initiate comfort care measures, thereafter, patient eventually expired.[pubs.sciepub.com]
  • Page 5 of 7 Molecular diagnosis is crucial for genetic counseling and prognosis [23, 24]. An earlier genetic diagnosis provides better disease management and also protects patients from more invasive clinical evaluation [25].[mafiadoc.com]

Etiology

  • Keratoconus (KC) is the most common indication for corneal transplantation in the Western world, with etiologic mechanisms still poorly understood.[scinapse.io]
  • The role of geneticvariation in the lamin A/C gene in the etiology of polycystic ovarysyndrome. J Clin Endocrinol Metab 2009;94(7):26659.[23] Meinke P, Nguyen TD, Wehnert MS. The LINC complex and humandisease.[docslide.fr]
  • Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012; 71 :141–5. [ PubMed : 22275259 ] Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dinçer P.[ncbi.nlm.nih.gov]
  • Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012; 71:141-145. Hayashi, YK, Mizuno, Y, Yoshida, M, et al.[pathologycenter.jp]
  • .; licensee BioMed Central Ltd. 2014 Received: 12 May 2014 Accepted: 21 July 2014 Published: 19 August 2014 Abstract Background Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that[bmcneurol.biomedcentral.com]

Epidemiology

  • Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet. 1996;97:277–9. PubMed CrossRef Google Scholar 62. Hughes MI, Hicks EM, Nevin NC, Patterson VH.[doi.org]
  • Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997; 34 :973–7. [ PMC free article : PMC1051145 ] [ PubMed : 9429136 ] Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol. 2009;65:677–86. PubMed CrossRef Google Scholar 83. Ferreiro A, Quijano-Roy S, Pichereau C, et al.[doi.org]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[momentumhealth.net]
  • This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2.[pubs.sciepub.com]
  • However, the American Academy of Neurology has developed guidelines for treatment of LGMD including: [5] [6] Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the[rarediseases.info.nih.gov]
  • The one exception was classified as a likely pathogenic, consequent to there being only one affected member in the family, thus preventing demonstration of co-segregation with multiple affected individuals (Table 1).[mafiadoc.com]

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