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Congenital Muscular Dystrophy due to LMNA Mutation

L-CMD


Presentation

  • 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]
  • Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagnosis.[books.google.com]
  • 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]
  • RESULTS: The 15 patients presented with muscle weakness in the first year of life, and all had de novo heterozygous LMNA mutations.[ncbi.nlm.nih.gov]
Sleep Apnea
  • Additional secondary outcomes include ejection fraction (relevance subtype specific), forced vital capacity in liters, weight, Rapid Eye Movement (REM) sleep apnea hypopnea index and mean oxygen saturation during REM and total sleep study, age, gender[clinicaltrials.gov]
Aspiration
  • Secondary outcomes include disease specific adverse event rates including rates of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation,[clinicaltrials.gov]
Constipation
  • Secondary outcomes include disease specific adverse event rates including rates of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation,[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]
Chest Pain
  • pain, dyspnea assessed by a validated breathing assessment, vomiting and nausea and difficulty eating.[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]
Hyperlaxity
  • […] dystrophy-dystroglycanopathy type A [DS: H00120 ] Muscular dystrophy-dystroglycanopathy type B [DS: H01960 ] Muscular dystrophy-dystroglycanopathy type C [DS: H01959 ] Rigid spine syndrome (RSS) [DS: H01310 ] Integrin alpha7-deficient CMD LMNA-deficient CMD CMD with hyperlaxity[genome.jp]
  • Affected individuals may experience hypotonia, contractures, joint hyperlaxity, and scoliosis. In this form of CMD, intelligence has been unaffected and individuals retain the ability to walk into adulthood.[rarediseases.org]
Fracture
  • Movement (REM) sleep apnea hypopnea index and mean oxygen saturation during REM and total sleep study, age, gender, type of treatment center location (national referral center, tertiary care hospital, community hospital), gastrostomy tube, total number of fractures[clinicaltrials.gov]
Poor Spontaneous Movements
  • Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity.[ncbi.nlm.nih.gov]

Workup

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

Treatment

  • 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]

Prognosis

  • 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]
  • Genetic counselling provides information on the inheritance pattern, risks to other family members, and the ‘prognosis’ (likely outcome of the disorder).[mda.org.au]
  • Many LMNA mutation carriers have a poor prognosis, because of a high frequency of MVA and progression to end-stage heart failure. However, it is unclear how to identify mutation carriers that are at risk for MVA.[researchgate.net]

Etiology

  • 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]

Epidemiology

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

Prevention

  • 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]

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