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Limb-Girdle Muscular Dystrophy Type 1F

LGMD1F


Presentation

  • There is variability in presentation and progression. Some patients present in early childhood with mildly delayed walking and difficulty running and jumping, whereas others present as adults with mainly pelvic-girdle weakness.[ncbi.nlm.nih.gov]
  • 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.com]
  • In the more severely affected patients, distal muscle weakness occurred in the advanced stages of the disease, when also winging scapulae, scoliosis, and occasional facial weakness were present.[link.springer.com]
  • Patients typically present with proximal muscle weakness of legs more than arms, with no sensory involvement.[clevelandclinicmeded.com]
  • POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum. Mol. Genet. 2014; 23(21):5781-92. PMID: 24925318 Lemmers, RJ, et al.[invitae.com]
Arachnodactyly
  • Keywords Transportinopathy Dominant LGMD Arachnodactyly Finger contractures References 1. Gamez J, Navarro C, Andreu AL, et al. Autosomal dominant limb girdle muscular dystrophy. A large kindred with evidence for anticipation.[link.springer.com]

Workup

  • At this stage, there are several strategies that depend on the clinical data generated by the initial workup, the geographic/ethnic origin of the patients and the availability and quality of muscle sampling.[annalsofian.org]
  • See Workup for more detail. Management No specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential to preserve muscle function, maximize functional ability, and prolong life expectancy.[emedicine.medscape.com]

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.com]
  • 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]
  • In acquired myopathies, treatment is targeted toward the underlying cause. Treatment of statin myopathies is dependent on creatine phosphokinase levels and degree of muscle symptoms. Consider lower doses when initiating statin therapy.[clevelandclinicmeded.com]

Prognosis

  • Prognosis and management, therefore, are not uniform across the subtypes of LGMD2. Nonetheless, early identification of complications and risk factors is crucial.[mdfgauteng.org]
  • Prognosis The prognosis of LGMD varies tremendously. Most people with LGMD, however do not have severe symptoms and most experience a normal lifespan. Cardiac and respiratory difficulties can, however, decrease the lifespan.[encyclopedia.com]
  • Thus these therapies are not likely to be an available for many years, Prognosis Most forms of muscular dystrophy are chronic and progressive and persist throughout life.[brainfoundation.org.au]
  • Chronic pain can occur, and pain management should be part of care. [ 19 ] Prognosis This depends on the type of LGMD and whether there is cardiac or respiratory involvement. In general, all types of LGMD progress with time.[patient.info]
  • Genetic counselling provides information on the inheritance pattern, risks to other family members, and the ‘prognosis’ (likely outcome of the disorder).[mda.org.au]

Etiology

  • The debate was eventually settled in favor of a myopathic etiology, and in 1954, Walston and Nattrass included FSH as one of the three categories of muscular dystrophy, along with Duchenne MD and Limb-Girdle MD.[medicine.yale.edu]
  • Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures.[clevelandclinicmeded.com]
  • The genetic and morphological findings are discussed in relation to the classification and etiology of the limb-girdle muscular dystrophy. 1974 S.[karger.com]
  • Greenberg SA, Salajegheh M, Judge DP, et al. (2012) Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Annals Neurology 71 (1): 141–145.[els.net]
  • 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]

Epidemiology

  • Relevant External Links for TNPO3 Genetic Association Database (GAD) TNPO3 Human Genome Epidemiology (HuGE) Navigator TNPO3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TNPO3 No data available for Genatlas for TNPO3 Gene A human importin-beta[genecards.org]
  • ., 3rd Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation. 1989 Sep; 80 (3):564–572. [ PubMed ] [ Google Scholar ] Dec GW, Fuster V.[ncbi.nlm.nih.gov]
  • Other proteins involved include dystroglycan, fukutin-related protein, calpain, dysferlin and telethonin. [ 5 ] Epidemiology [ 2 ] The LGMDs individually are rare, with some forms reported in only a few families.[patient.info]
  • A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311. Thompson R, Straub V.[now.aapmr.org]
  • Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness[clevelandclinicmeded.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Limb-girdle muscular dystrophy (LGMD) protein defects occur in several pathways involved in the biologic function of muscle and can be divided into groups based on cellular localization.[emedicine.medscape.com]
  • Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances.[clevelandclinicmeded.com]

Prevention

  • Once a child has been conceived with the genes for muscular dystrophy, the disease cannot be prevented. Related concepts: The Gower Sign, Landouzy-Dejerine Disease, Steinert Disease.[drgreene.com]
  • Some of the complications can be prevented with appropriate treatment. For example, a cardiac pacemaker or defibrillator can greatly reduce the risk for sudden death due to an abnormal heart rhythm.[medlineplus.gov]
  • Physical therapy Physical therapy, in particular regular stretching, is used to maintain the range of motion of affected muscles and to prevent or delay contractures. Braces are used as well, especially on the ankles and feet to prevent equinus.[healthofchildren.com]
  • PREVENTION Muscular dystrophy is an inherited disease.[tellmegen.com]
  • Back supports and special seating can help prevent spinal instability. What You Can Do to Raise Awareness The goal of Limb Girdle Muscular Dystrophy Awareness Day on September 30, 2015 is to bring attention to this rare neuro-muscular disease.[blog.ncpad.org]

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