At present, the genetic classification is becoming too complex, since the acronym LGMD has also been used for a number of other myopathic disorders with overlapping phenotypes. [ncbi.nlm.nih.gov]

It usually presents within the first decade of life. The most common presenting complaint is primarily myalgia, followed by ‘rippling muscles’ and proximal muscle weakness [ 68 ]. [content.iospress.com]

Patients with an onset in the early teens, show a more severe phenotype with a rapid disease course, while adult onset patients present a slower course. [archive.org]

Fig. 3 Resting CD4 + T-cell stimulation following co-culture with antigen presenting cells. [retrovirology.biomedcentral.com]

Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. Ultrasound Obstet Gynecol. 2002;20:312–3. PubMed CrossRef Google Scholar 31. Sarnat HB, O’Connor T, Byrne PA. [doi.org]

• Weakness

  […] with a subsequent distal weak- ness. [archive.org]

  Dystrophinopathies may present with similar onset and patterns of weakness to some of the LGMD. Female carriers may also manifest mild proximal weakness and are easily misdiagnosed with LGMD [ 98 ]. [content.iospress.com]

  The distribution of weakness includes a limb-girdle pattern, with shoulder and hip girdle muscle involvement; a humeroperoneal pattern, with predominantly triceps, biceps, and peroneal muscles weakness; or a distal pattern, with distal weakness in the [doi.org]

  […] recessive limb-girdle muscular dystrophy type 2w - elite association - COSMIC cancer census association via MalaCards Limb-girdle muscular dystrophy 2S (LGMD2S) [MIM:615356]: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness [genecards.org]

• Disability

  disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability [se-atlas.de]

  (PMID: 27862579) Matalonga L … Girós M (Human mutation 2017) 3 4 60 Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. [genecards.org]

  […] syndrome Arachnodactyly - intellectual disability - dysmorphism Aminolevulinate dehydratase deficiency porphyria Ankyloblepharon filiforme imperforate anus Spastic paraplegia 7 Spastic paraplegia 26 Trichodental syndrome Spastic paraplegia 5A Wagner [checkrare.com]

  […] second or third decade but sometimes in middle age, (b) commencement of muscular weakness in either the shoulder or pelvic girdle, (c) transmission usually via an autosomal recessive gene, (d) a relatively slow course which nevertheless leads to severe disablement [content.iospress.com]

• Congestive Heart Failure

  heart failure syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual [se-atlas.de]

• Failure to Thrive

  […] to thrive-microcephaly due to ASXL3 deficiency syndrome Severe intellectual disability and progressive spastic paraplegia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-progressive postnatal [se-atlas.de]

  […] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital pterygium Osteoporosis-pseudoglioma syndrome Hypomelanosis of Ito Porokeratosis [checkrare.com]

• Heart Disease

  […] syndrome Harrod syndrome Heart-hand syndrome Heart-hand syndrome type 2 Heart-hand syndrome type 3 Heart-hand syndrome, Slovenian type Hemimelia Hennekam syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome Hereditary breast cancer [se-atlas.de]

  […] type 3 Heart-hand syndrome, Slovenian type Peters plus syndrome Congenital heart block Uhl anomaly Sudden Arrhythmia Death Syndrome Microcephaly-cardiomyopathy Gaucher disease Noonan syndrome Brugada syndrome 3 Buerger disease PHACE syndrome Familial [checkrare.com]

  Neuropathy, hereditary sensory and autonomic, type VI 614653 113810 Autosomal recessive DTNA 18q12.1 Left ventricular noncompaction 1, with or without congenital heart defects 604169 601239 Autosomal dominant DYM 18q21.1 Dyggve-Melchior-Clausen disease [mnglabs.com]

• Muscle Weakness

  weakness with childhood onset, resulting in gait abnormalities and scapular winging. [genecards.org]

  The distribution of weakness includes a limb-girdle pattern, with shoulder and hip girdle muscle involvement; a humeroperoneal pattern, with predominantly triceps, biceps, and peroneal muscles weakness; or a distal pattern, with distal weakness in the [doi.org]

  LGMDIC is characterized by an onset usually in the first decade, a mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. [archive.org]

  Heterogeneity is seen between subtypes in presenting complaint, most but not all, experience proximal muscle weakness or myalgia. [content.iospress.com]

• Proximal Muscle Weakness

  muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. [genecards.org]

  Heterogeneity is seen between subtypes in presenting complaint, most but not all, experience proximal muscle weakness or myalgia. [content.iospress.com]

  LGMDIC is characterized by an onset usually in the first decade, a mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. [archive.org]

• Paresis

  […] disease, recessive intermediate, A 608340 606598 Autosomal recessive GDAP1 8q21.11 Charcot-Marie-Tooth disease, axonal, type 2K 607831 606598 Autosomal dominant; Autosomal recessive GDAP1 8q21.11 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis [mnglabs.com]

  […] deficiency syndrome Ring chromosome 9 Aplasia cutis congenita intestinal lymphangiectasia Sitosterolemia Benallegue Lacete syndrome Cutis laxa, autosomal dominant PMM2-CDG (CDG-Ia) Hereditary paraganglioma-pheochromocytoma Hereditary congenital facial paresis [checkrare.com]

treatment articles: Treatments for Muscular Dystrophy Treatments for Limb-girdle muscular dystrophy Causes See also causal information: Causes of Muscular Dystrophy Causes of Limb-girdle muscular dystrophy Similar Topic Articles Muscular dystrophy-dystroglycanopathy [familydiagnosis.com]

Following natural history data collection, the next challenge is to develop more effective, disease specific treatments. Current management is focussed on symptomatic and supportive treatments. [content.iospress.com]

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol. 2009;65:677–86. PubMed CrossRef Google Scholar 83. Ferreiro A, Quijano-Roy S, Pichereau C, et al. [doi.org]

T-cell proliferation following co-culture and SEB treatment was highest with CD1c + DC and lowest with B-cells (Fig. 3 b), confirming previous observations by others [ 26 ]. [retrovirology.biomedcentral.com]

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet. 1996;97:277–9. PubMed CrossRef Google Scholar 62. Hughes MI, Hicks EM, Nevin NC, Patterson VH. [doi.org]

Classification and epidemiology All form of LGMD are inherited autosomally and the classification is alphanumeric with assignation of number ‘1’ or ‘2’ depending on whether they are inherited dominantly or recessively. [content.iospress.com]

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol. 2009;65:677–86. PubMed CrossRef Google Scholar 83. Ferreiro A, Quijano-Roy S, Pichereau C, et al. [doi.org]

The integrase inhibitor, L8, prevented any progression of pre-integration complexes to integration and inhibited secondary rounds of infection. [retrovirology.biomedcentral.com]

Efforts should be focussed on prevention of contractures and orthopaedic referral where necessary [ 111 ]. Non maximal aerobic exercise should beencouraged. Respiratory failure is a feature of many types of LGMD. [content.iospress.com]