Symptoma

Congenital Muscular Dystrophy due to LMNA Mutation

L-CMD

Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. [ncbi.nlm.nih.gov]

We present the evolution of cardiac disease in three children with congenital muscular dystrophy presentation of LMNA -related muscular dystrophy. In this series, atrial arrhythmia was the presenting cardiac finding in all three patients. [cambridge.org]

They play an important role in the organization of chromatin and nuclear membrane. [2] Diagnosis [ edit ] Unlike most muscular dystrophies, lamin A/C CMD does not present a breakdown of muscular fibres caused by muscle degeneration. [en.wikipedia.org]

AB - Background: Dropped head syndrome is an easily recognizable clinical presentation of. Lamin A/C-related congenital muscular dystrophy. [mayoclinic.pure.elsevier.com]

RESULTS The 15 patients presented with muscle weakness in the first year of life, and all had de novo heterozygous LMNA mutations. Three of them had severe early… CONTINUE READING [semanticscholar.org]

  • Virilization

    […] glycogen phosphorylase deficiency Hepatocellular carcinoma, childhood-onset Hereditary chronic pancreatitis Idiopathic bronchiectasis Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Male infertility with normal virilization [csbg.cnb.csic.es]

  • 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]

  • Neck Muscle Weakness

    Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. Case description: Two patients exhibited head drop during infancy although they were able to sit independently. [mayoclinic.pure.elsevier.com]

    muscle weakness Bilateral talipes equinovarus Childhood onset Decreased fetal movement Arthrogryposis multiplex congenita Talipes equinovarus Autosomal dominant inheritance Difficulty climbing stairs Increased variability in muscle fiber diameter Nystagmus [mendelian.co]

  • Atelectasis

    Patient and proxy hospitalization, pneumothorax and atelectasis reports will be confirmed by obtaining hospital discharge summaries. [clinicaltrials.gov]

Said one parent of an affected child, “I'm very impressed and touched to see that many professionals are working hard to find answers, a treatment and ultimately a cure to our condition. [raredr.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]

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.com]

Treatment [ edit ] There is no cure for CMD. [en.wikipedia.org]

[…] was founded in 2008 to advance research for treatments and a cure for the congenital muscular dystrophies. [globalgenes.org]

Symptoms are managed for each individual and may involve the coordination of several healthcare specialists. [3] Prognosis [ edit ] There is an open prognosis because this disease has an unknown evolution. [en.wikipedia.org]

The management is aimed more at treating the symptoms and controlling the complications (if any) The prognosis depends on the severity of the muscle contractures and the degree of cardiac involvement Emery-Dreifuss Muscular Dystrophy is a genetic disorder [dovemed.com]

Prognosis - Limb-girdle muscular dystrophy- type 1B The gene for LGMD 1B has been linked to chromosome 1q11-q21. This form of LGMD was linked in several families in 1997. [checkorphan.org]

Prognosis is usually largely influenced by cardiac status. [academic.oup.com]

Genetic counselling provides information on the inheritance pattern, risks to other family members, and the ‘prognosis’ (likely outcome of the disorder). [mda.org.au]

Diagnosis and etiology of congenital muscular dystrophy. Neurology 2008 71: 312-321. [treatneuro.com]

However, genetic lipodystrophies can be further subdivided on the basis of their clinical phenotype, complications and genetic etiology. [edmcasereports.com]

Chin Yee Ho, Diana E Jaalouk and Jan Lammerding, Novel insights into the disease etiology of laminopathies, Rare Diseases, 10.4161/rdis.27002, 1, 1, (e27002), (2014). [doi.org]

Autonomic etiology of heart block in amyotrophic lateral sclerosis: a case report. J Med Case Rep 2014;8:224. 12. Massari FM, Tonella T, Tarsia P, Kirani S, Blasi F, Magrini F. Tako-tsubo syndrome in a young man with amyotrophic lateral sclerosis. [synapse.koreamed.org]

Lancet 359 : 687 – 695 43 2002 Banting lecture 2001: Dysregulation of fatty acid metabolism in the etiology of type 2 diabetes. [academic.oup.com]

Infection control and hospital epidemiology : the official journal of the Society of Hospital Epidemiologists of America. (2005) [ Pubmed ] [wikigenes.org]

Neuromuscular Disord, 2001, vol. 11 (pg. 178 - 85 ) 40 The 10 autosomal recessive limb-girdle muscular dystrophies, Neuromuscular Disord, 2003, vol. 13 pg. 532 41 The heart in limb girdle muscular dystrophy, Heart, 1998, vol. 79 (pg. 73 - 7 ) 42 Genetic epidemiology [academic.oup.com]

Muscular or cardiac involvement in typical FPLD also raises questions about the pathophysiology of the disease. [academic.oup.com]

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. Hum Mutat. 2006 ; 27 : 524–531. [circgenetics.ahajournals.org]

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. [umd.be]

The principal focus of his research has been elucidation of the pathogenesis of the major forms of brain injury in the newborn, and prevention of this injury. [books.google.com]

Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006 ; 354 : 209 – 210. 6. van Rijsingen, IA, Arbustini, E, Elliott, PM, et al. [cambridge.org]

[…] the arms and lower legs, and heart conduction abnormalities The diagnosis of this genetic disorder includes a complete medical history, a thorough physical exam and tests such as electromyography and muscle biopsy There is no definitive treatment and prevention [dovemed.com]

This prevented the proper organization of the neuromuscular junction and disrupted muscle fiber innervation, says author Alexandre Méjat. [news-medical.net]