[…] 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]

Cardiac disease may be present in up to 33%. [emedicine.medscape.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]

• Weakness

  While two patients complained of limb-girdle weakness, as would be expected, one patient had distal weakness. They had various serum creatine kinase levels. [ncbi.nlm.nih.gov]

  […] muscle weakness Mainly manifests with ophthalmoparesis and with bulbar weakness manifesting with dysarthria and dysphagia Facioscapulohumeral muscular dystrophy Approximately 4 per 100,000 population Face and arm weakness, scapular winging, and later [clevelandclinicmeded.com]

  Fukutin related protein LGMD 2J Onset 1 st to 3 rd decade, proximal lower limb weakness, mild distal weakness, progressive weakness causes loss of ambulation Titin LMGD 2K Usually presents in infancy as Walker Wanrburg syndrome but can present in early [jcdr.net]

  DM1 should be suspected in newborns who present with one or any of the following: Hypotonia Facial muscle weakness Generalized weakness Positional malformations including club foot Respiratory insufficiency. [centogene.com]

  Affected infants usually exhibit profoundly diminished muscle tone (hypotonia) and muscle weakness at birth. Muscle weakness often affects the arms, legs, and trunk. [rarediseases.org]

• Difficulty Climbing Stairs

  LGMD1 patients may need to use walking aids, can have difficulties climbing stairs and lose the ability to walk. Creatine kinase (CK) levels can be normal to moderately elevated. [mdfgauteng.org]

  Symptoms that might be noticed first include frequent falls and difficulty climbing stairs, running and rising from the floor. [mda.org.au]

• Dysphagia

  An autosomal dominant hereditary disease that presents in late in life and is characterized by dysphagia and progressive ptosis of the eyelids. [icd10data.com]

  Unfortunately, inclusion body myositis, though classified as an inflammatory myopathy, is typically refractory to immunosuppressant treatment and continues to progress, with prominent dysphagia and more generalized weakness over time. [clevelandclinicmeded.com]

  […] disease of muscle (RYR1) Myopathy, congenital, with fiber-type disproportion (ACTA1, SEPN1, TPM3) Minicore myopathy, severe classic form (SEPN1) Early-onset myopathy with fatal cardiomyopathy (TTN) Early-onset myopathy, areflexia, respiratory distress and dysphagia [meduniwien.ac.at]

  Nutritional: Patient may have dysphagia or inability to feed themselves due to upper limb weakness. Referral for swallow evaluation and optimization of nutrition is important. [now.aapmr.org]

  Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type AD/AR 250 564 MEGF10 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia [blueprintgenetics.com]

• Suggestibility

  There is a wide variation in prevalence of LGMD subtypes in different ethnicities, suggesting potential founder mutations [ 7 ]. [content.iospress.com]

  However, quantitative MRI analysis shows reduced gray matter volume, and diffusion tensor imaging shows white matter changes that suggest reduced fiber density and altered structure. [neuropathology-web.org]

  Recent data show that CMD and LGMD can overlap both clinically and genetically, which suggests that the underlying pathology may follow similar pathways. [dmd.nl]

  Back to Top Suggested Readings Ballantyne CM, Corsini A, Davidson MH, et al: Risk for myopathy with statin therapy in high-risk patients. Arch Intern Med 2003;163(5):553–564. [clevelandclinicmeded.com]

• Ataxia

  Spinocerebellar ataxia 2 (ATXN2) Spinocerebellar ataxia 3 (ATXN3) Spinocerebellar ataxia 6 (CACNA1A) Spinocerebellar ataxia 7 (ATXN7) HEREDITARY CARDIOMYOPATHIES Cardiomyopathy, familial hypertrophic (CAV3) Dilated cardiomyopathy, 1I (DES) Cardiomyopathy [meduniwien.ac.at]

  […] disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar [se-atlas.de]

  Niks, Annemieke Aartsma‐Rus Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study Alhassane Diallo, Heike Jacobi, Arron Cook, Robyn Labrum, Prof Alexandra Durr, Prof Alexis Brice, Perrine Charles, [rd-neuromics.eu]

  Myotonic Dystrophy Myotonic dystrophy belongs to a class of disease known as the Trinucleotide repeat expansion diseases, which includes Huntington’s disease, Friedreich ataxia, and Fragile X syndrome. [lecturio.com]

  Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia [en.wikipedia.org]

• Dysarthria

  […] labor-related complications Eyelid ptosis without extraocular muscle weakness Oculopharyngeal muscular dystrophy Relatively rare Rarely presents with distal muscle weakness Mainly manifests with ophthalmoparesis and with bulbar weakness manifesting with dysarthria [clevelandclinicmeded.com]

  Liang et al., 2007 [ 12 ] 45 Conscious loss Pons VPC, VT, VF nil AD-EDMD p.Trp520Gly (c.1558 T>G) Redondo-Vergé et al., 2011 [ 13 ] 25 Aphasia, right hemiparesis Left MCA AF, AVB ICD, 25 AD-EDMD p.Arg89Leu (c.266 G>T) Tanaka et al., 2012 [ 14 ] 12 Dysarthria [bmcresnotes.biomedcentral.com]

  Dysarthria and facial weakness may be present. Cardiomyopathy or arrhythmia is noted in 50%. Neuropathy noted in more than 50% may account for distal weakness. [emedicine.medscape.com]

  Onset CK Level Progression Muscular Findings Extramuscular Findings LGMD1A MYOT/Myotilin Adulthood Normal to High Slow Scapular-humeral-pelvic Distal Weakness; Rimmed vacuole; Ankle contractures Peripheral Neuropathy; Cardiomyopathy; Nasal speech / dysarthria [now.aapmr.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]

  In his adolescence, he developed proximal leg weakness with Gowers’ sign (i.e., with hip girdle weakness, the patient arises from a stooped or a squatting position by using his hands to “climb up the legs”). [bmcresnotes.biomedcentral.com]

• Areflexia

  […] recessive (BIN1) Central core disease of muscle (RYR1) Myopathy, congenital, with fiber-type disproportion (ACTA1, SEPN1, TPM3) Minicore myopathy, severe classic form (SEPN1) Early-onset myopathy with fatal cardiomyopathy (TTN) Early-onset myopathy, areflexia [meduniwien.ac.at]

  […] dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type AD/AR 250 564 MEGF10 Myopathy, early-onset, areflexia [blueprintgenetics.com]

• Cerebellar Ataxia

  ataxia-epilepsy-intellectual disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency [se-atlas.de]

Electrophysiology and laboratory tests including CPK, toxic and metabolic screen are done as part of diagnostic workup. To distinguish LGMD from dystrophinopathy can be a problem, especially in a young boy with severe weakness (SCARMD phenotype). [neurologyindia.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]

Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [books.google.com]

More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2C is available below. [checkorphan.org]

"Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies". Neurology. 83 (16): 1453–1463. doi : 10.1212/WNL.0000000000000892. ISSN 0028-3878. PMC 4206155. [en.wikipedia.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]

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]

Prognosis and management, therefore, are not uniform across the subtypes of LGMD2. Nonetheless, early identification of complications and risk factors is crucial. [mdfgauteng.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]

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]

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]

We ascertained two families with autosomal dominant limb-girdle muscular dystrophy of unknown etiology. [journals.plos.org]

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]

Cell. 1995 Mar 10; 80 (5):675–679. [ PubMed ] [ Google Scholar ] Codd MB, Sugrue DD, Gersh BJ, Melton LJ., 3rd Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. [ncbi.nlm.nih.gov]

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]

^ a b c d "Limb-Girdle Muscular Dystrophy: Practice Essentials, Background, Pathophysiology". [en.wikipedia.org]

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]

Multiple functions are described, but the pathophysiologic basis for LGMD1B is unknown. [emedicine.medscape.com]

Prevention - Limb-girdle muscular dystrophy- type 2C Not supplied. Diagnosis - Limb-girdle muscular dystrophy- type 2C Not supplied. [checkorphan.org]

Thus, although no current guidelines are available, oral anticoagulant is advisable in such cases with AF for stroke prevention. [bmcresnotes.biomedcentral.com]

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]

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]