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Muscular Dystrophy-Dystroglycanopathy Type C5

LGMDR9


Presentation

  • This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.com]
  • The age of onset of this form of muscular dystrophy is variable, with symptoms presenting between the ages of 1 and 40 years.[sema4genomics.com]
  • Cardiac disease may be present in up to 33%.[emedicine.medscape.com]
  • Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable.[chs-journal.com]
Difficulty Climbing Stairs
  • climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frequent falls 0002359 Motor delay 0001270 Reduced muscle fiber merosin 0030092 Scoliosis Abnormal curving[rarediseases.info.nih.gov]
  • Some cases of LGMD may have onset during adulthood, mild symptoms, and slow progression; others may have onset during childhood and early severe disability such as difficulty climbing stairs and walking.[rarediseases.org]
  • Symptoms that might be noticed first include frequent falls and difficulty climbing stairs, running and rising from the floor.[mda.org.au]
Difficulty Walking
  • Clinical features include weakness of the hip and shoulder girdle, difficulty walking, spinal abnormalities including scoliosis, lordosis and kyphosis, and cardiomyopathy. Patients may also experience difficulty breathing.[sema4genomics.com]
  • walking up stairs 0003551 Difficulty running 0009046 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frequent falls 0002359 Motor delay 0001270 Reduced muscle fiber merosin 0030092 Scoliosis Abnormal curving of the spine 0002650 1%-[rarediseases.info.nih.gov]
Proximal Muscle Weakness
  • The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. 0003236 Muscular dystrophy 0003560 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Reduced[rarediseases.info.nih.gov]
  • LGMD2L (anoctominopathy) Affected individuals were reported to have proximal muscle weakness in lower and upper limbs and muscle hypertrophy was common. Intelligence was reported to be normal.[rarediseases.org]
  • Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency.[uniprot.org]
  • Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness.[paperity.org]
  • His immediate younger sister has similarly complaints of proximal muscle weakness and an abnormal gait but no cardiac symptoms. Both parents and the other four siblings are not affected.[chs-journal.com]
Lordosis
  • Clinical features include weakness of the hip and shoulder girdle, difficulty walking, spinal abnormalities including scoliosis, lordosis and kyphosis, and cardiomyopathy. Patients may also experience difficulty breathing.[sema4genomics.com]
  • Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows.[lgmd-info.org]
  • Additional abnormalities that may develop in individuals with LGMD include abnormal side-to-side curvature of the spine (scoliosis), abnormal front-to-back curvature of the spine (lordosis), thickening and shortening of tissue that cause deformity and[rarediseases.org]
  • […] normal strength in distal arms; LGMD2M FKTN / Fukutin Early childhood Very high Moderate Legs arms; mild to moderate facial involvement LGMD2N POMT2 / protein O-mannosyl transferase 2 Early childhood High Slow Calf hypertrophy; scapular winging; skeletal lordosis[now.aapmr.org]
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]

Workup

  • This may simplify the diagnostic workup at least for some patients.[jmg.bmj.com]
  • 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]
  • While magnetic resonance imaging (MRI) can have a role in the diagnostic workup of patients with inherited muscle diseases [7] – [10], with MRI changes sometimes predating clinical/functional changes [11], this is less important than genetic profiling[journals.plos.org]

Treatment

  • The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

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]
  • 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

  • During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle[clinicaltrials.gov]
  • Onset and severity of symptoms vary widely and are, to some extent, dependent upon the molecular etiology of the disease. Phenotypes for ten of the fifteen known LGMD genes are autosomal recessive.[journals.lww.com]
  • 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]
  • Abstract Background Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles.[springermedizin.de]
  • Etiology Currently, there are more than 30 different known LGMDs including the eight dominant (LGMD1A-H) and 23 recessive (LGMD2A-Y) types.[now.aapmr.org]

Epidemiology

  • […] syndrome Synonym(s): - LGMD2I - Limb girdle muscular dystrophy due to FKRP deficiency Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme – The International Classification of Diseases is the international standard diagnostic tool for epidemiology, health management and clinical purposes.[wikivisually.com]
  • 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]
  • Accordingly, a prevalence for LGMD2I could be estimated that is within the range of other, more frequent muscular dystrophies. 15 However, epidemiological studies are warranted to prove this hypothesis.[jmg.bmj.com]
  • 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

Prevention

  • This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2.[pubs.sciepub.com]
  • A physiotherapist can recommend stretches to keep joints supple and if necessary special splints (orthoses) to prevent muscle shortening (contractures) which are common in some types of LGMD.[mda.org.au]
  • Passive range of motion is important for prevention of contractures.[now.aapmr.org]
  • The primary goals of physical therapy are to allow greater motion in the joints and to prevent contractures (freezing of the joints).[lgmd2i.com]
  • ACE inhibitors are certainly helpful to treat and presumably to prevent, cardiomyopathy in some specific LGMDs (LGMD2I, LGMD2C and maybe others).[annalsofian.org]

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