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Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1C

LGMD1C


Presentation

  • According to the clinical presentation, rippling muscle disease is the major phenotype of caveolinopathies [ 1 , 2 , 3 ]. Prevalence Rare, 1:1,000,000.[link.springer.com]
  • […] and only minor CNS abnormalities Fukutin LGMD 2 N Usually presents in infancy as Muscle-Eye-Brain disease but can present in early adult life with proximal weakness and only minor CNS abnormalities POMGn T1 LGMD 2O Usually presents in infancy as Walker[jcdr.net]
  • They often present with both weakness and sensory loss in a “ glove and stocking” fashion.[lecturio.com]
  • A 35-year-old man presents to his primary care physician's office for difficulty chewing and walking and mild musclar pain. He notices himself dragging his feet while walking and pain in his legs. He experiences stiffness in his jaw and his hands.[medbullets.com]
  • Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable.[chs-journal.com]
Respiratory Abnormalities
  • Additional symptoms are often associated with the sarcoglycanopathies including overgrowth of the calf and tongue muscles, cardiomyopathy, respiratory abnormalities, contractures, and scoliosis.[rarediseases.org]
Muscle Rigidity
  • Malignant Hyperthermia Malignant hyperthermia is a severe reaction to anesthetic agents and depolarizing muscle-blocking agents that manifests as muscle rigidity, fever, muscle necrosis, myoglobinuria, metabolic acidosis, kidney failure, and cardiac arrhythmias[clevelandclinicmeded.com]
Hypertension
  • Six (35.3%) of the patients had ECG signs of pulmonary hypertension, ventricular ectopic beats and sustained paroxysmal sinus tachycardia. Others include inverted T-waves; tall R-waves in leads V1-V2 which this patient had and deep Q-waves in V4-V6.[chs-journal.com]
Proximal Muscle Weakness
  • 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]
  • Based on the history, proximal muscle weakness, creatinine phosphokinase levels, EMG and muscle biopsy, diagnosis of LGMD was made.[jcdr.net]
  • LGMD 2A (calpain 3) Childhood (8-15) There is mainly proximal muscle weakness. There is slow progression. Muscle atrophy is prominent (notable sparing of the hip abductors). Contractures are common.[patient.info]
  • Our patient had a history of muscle problems in an autosomal dominant inheritance pattern and proximal muscle weakness began in early adulthood and progressively deteriorated over the next two decades.[omicsonline.org]
  • Patients typically present with proximal muscle weakness of legs more than arms, with no sensory involvement.[clevelandclinicmeded.com]
Proximal Muscle Weakness
  • 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]
  • Based on the history, proximal muscle weakness, creatinine phosphokinase levels, EMG and muscle biopsy, diagnosis of LGMD was made.[jcdr.net]
  • LGMD 2A (calpain 3) Childhood (8-15) There is mainly proximal muscle weakness. There is slow progression. Muscle atrophy is prominent (notable sparing of the hip abductors). Contractures are common.[patient.info]
  • Our patient had a history of muscle problems in an autosomal dominant inheritance pattern and proximal muscle weakness began in early adulthood and progressively deteriorated over the next two decades.[omicsonline.org]
  • Patients typically present with proximal muscle weakness of legs more than arms, with no sensory involvement.[clevelandclinicmeded.com]
Myalgia
  • Patients may also have proximal weakness, muscle hypertrophy, or myalgias. Treatment - Limb-girdle muscular dystrophy- type 2C Not supplied. Resources - Limb-girdle muscular dystrophy- type 2C Not supplied.[checkorphan.org]
  • Symptoms can range from mild cramps to more-severe myalgias, pain, and weakness. Rhabdomyolosis has also been reported in rare cases.[clevelandclinicmeded.com]
  • May develop myalgia, myoglobinuria, contractures, muscle hypertrophy.[patient.info]
  • May manifest with quadriceps atrophy and myalgia.[jcdr.net]
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]
Irritability
  • Besides the classic limb girdle muscular dystrophy or distal myopathy phenotype, rippling muscle disease is characterized by signs of increased muscle irritability such as percussion/pressure-induced rapid muscle contractions, electrically silent wave-like[link.springer.com]
  • LGMD 1C - may have rippling muscle disease, characterised by signs of increased muscle irritability, such as percussion-induced rapid contraction, percussion-induced muscle mounding and/or electrically silent muscle contractions (rippling muscle). [ 9[patient.info]
  • Most patients with CAV3 alterations present with rippling muscle disease (RMD) characterized by signs of increased muscle irritability without muscle weakness [2].[wikigenes.org]
Gowers Sign
  • Image : “Gower’s sign.” by William Richard Gowers (1845–1915) – Gowers WR. Clinical lecture on pseudohypertrophic muscular paralysis. Lancet 1879;ii,73-5.[lecturio.com]
  • Gower’s sign was positive. Winging of scapula was present. Power was 3/5 at both shoulders, 4/5 at both elbows, 5/5 at both wrists, 3/5 at both hip joints, 3/5 at both knees, 5/5 at both ankles.[jcdr.net]
  • Is there a finding (or history) of Gower's sign? This is seen in patients with proximal muscle weakness of the lower limb: when rising to stand, they use the hands as support, such that the hands 'climb up the legs'.[patient.info]
Peripheral Neuropathy
  • Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes[books.google.com]
  • neuropathy Graves’ ophthalmopathy, extraocular muscle weakness Sarcoidosis myopathy Asymptomatic muscle involvement in 50% sarcoidosis patients Symmetrical proximal muscle weakness Focal muscle weakness from sarcoid granuloma Peripheral neuropathy CNS[clevelandclinicmeded.com]

Treatment

  • Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders.[books.google.com]
  • 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]
  • Botulism: the challenge of diagnosis and treatment. Rev Neurol Dis. 2006;3:182-189. Chalk C, Benstead TJ, Keezer M. Medical treatment for botulism. Cochrane Database Syst Rev. 2011;(3):CD008123. Dembek ZF, Smith LA, Rusnak JM.[tankonyvtar.hu]
  • More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2C is available below.[checkorphan.org]
  • Early and prompt treatment and early surveillance is much better than waiting for problems to occur and then trying to deal with them.[treat-nmd.eu]

Prognosis

  • The symptoms are similar to DMD but often milder, and patients are less likely to have mental retardation and have a better prognosis (30-40 years instead of teens).[lecturio.com]
  • Prognosis - Limb-girdle muscular dystrophy- type 2C Patients may also present with elevated CK levels without weakness but with myalgia and cramps, distal weakness, hypertrophic cardiomyopathy, or rippling-muscle disease.[checkorphan.org]
  • […] autosomal dominant mutation in DMPK gene on chromosome 19 leads to a CTG trinucleotide expansion Pathogenesis unclear, but it is believed that the abnormal mRNA transcript of DMPK impairs RNA splicing, which leads to missplicing of other RNA transcripts Prognosis[medbullets.com]
  • 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]
  • Prognosis depends on the type of LGMD and whether there is cardiac or respiratory involvement.[jcdr.net]

Etiology

  • Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures.[clevelandclinicmeded.com]
  • […] consequences such as sustained muscle contraction (myotonia) muscle weakness cataracts frontal balding arrhythmias Epidemiology incidence most common type of muscular dystrophy in adults especially with European ancestry risk factors family history Etiology[medbullets.com]
  • We screened 663 patients with various phenotypes of unknown etiology, for caveolin-3 protein deficiency, and we identified eight unreported caveolin -deficient patients (from seven families) in whom four CAV3 mutations had been detected (two are unreported[wikigenes.org]
  • 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]
  • .; 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

  • 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]
  • Introduction Clinical definition a hereditary disorder that results in a number of clinical consequences such as sustained muscle contraction (myotonia) muscle weakness cataracts frontal balding arrhythmias Epidemiology incidence most common type of muscular[medbullets.com]
  • 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]
  • 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]
  • 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

  • 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

  • Prevention - Limb-girdle muscular dystrophy- type 2C Not supplied. Diagnosis - Limb-girdle muscular dystrophy- type 2C Not supplied.[checkorphan.org]
  • This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2.[pubs.sciepub.com]
  • Carriers do not have any symptoms since they have one unchanged gene, which produces enough normal protein to prevent the symptoms of LGMD.[encyclopedia.com]
  • Prognosis of Muscular Dystrophy Though there has been much advancement in the treatment of muscular dystrophy but the disease is still incurable and non-preventable. Most of the patients die by the age of 30 years due to cardiopulmonary failure.[lecturio.com]
  • In patients with an underlying metabolic myopathy, education about following a more moderate exercise program and avoiding intense exercise and fasting is necessary in preventing recurrent episodes.[clevelandclinicmeded.com]

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