Earlier onset of the disease was observed in a group of patients presenting with muscle weakness and/or calf hypertrophy, and/or occasionally high CK and lactate serum levels. [moh-it.pure.elsevier.com]

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.it]

The main goal of the present project is to perform a clinical and genetic study aimed to identify the causing genetic defect of a novel form of limb-girdle muscular dystrophies autosomal dominantly transmitted, LGMD1H. [telethon.it]

Earlier onset of the disease was found in a group of patients presenting with muscle weakness and/or calf hypertrophy and/or occasionally high CK and lactate serum levels. [hal.archives-ouvertes.fr]

We describe clinical, histopathological and muscle MRI features of a large Italo-Spanish kindred with LGMD1F presenting proximal-limb and axial muscle weakness. [scinapse.io]

• Weakness

  Earlier onset of the disease was observed in a group of patients presenting with muscle weakness and/or calf hypertrophy, and/or occasionally high CK and lactate serum levels. [moh-it.pure.elsevier.com]

  calf hypertrophy Dyspnea; scoliosis II:3 c 59 49 F NA Myopathic pattern 1551 11.0 Muscle weakness II:5 57 50 F ++ Myopathic pattern 997 8.7 Muscle weakness II:9 49 45 F ++ Myopathic pattern 2139 6 Muscle weakness; calf hypertrophy Scoliosis II:13 42 [ncbi.nlm.nih.gov]

  Weakness of the hip and upper leg muscles may cause a distinctive waddling gait. Eventually, muscle weakness affects the muscles of the upper arms and shoulders (limb-girdle area). [rarediseases.org]

  OMIM : 58 Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs (Bisceglia et al., 2010). [malacards.org]

  Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. [mendelian.co]

• Epilepsy

  Childhood Absence 5 2 Epilepsy, Childhood Absence 6 1 Epilepsy, Early-Onset, Vitamin B6-Dependent 1 Epilepsy, familial focal, with variable foci 4 Epilepsy, Familial Focal, with Variable Foci 2 4 Epilepsy, Familial Focal, with Variable Foci 3 1 Epilepsy [preventiongenetics.com]

  E-2018 115 Viral Infections of the Nervous System E-2041 116 Fungal Rickettsial and Parasitic Diseases of the Nervous System E-2075 117 Neurologic Complications of Immunization E-2132 118 Paraneoplastic Neurologic Syndromes E-2142 119 ImmuneMediated Epilepsy [books.google.com]

  […] syndrome, Moynahan type [↗] Alopecia - epilepsy - pyorrhea - intellectual deficit [↗] Alopecia - epilepsy - pyorrhea - mental subnormality [↗] Alopecia - hypogonadism - extrapyramidal disorder [↗] Alopecia - intellectual deficit - hypergonadotropic hypogonadism [wikicure.wikia.com]

  Epilepsy in LAMA2-related muscular dystrophy: an electro-clinico-radiological characterization. Epilepsia. 2020;2020;61:971–83. [ncbi.nlm.nih.gov]

• Congestive Heart Failure

  Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. [abcam.com]

  Cardiac transplantation has been effective in some patients with LGMD1B and other subtypes who succumbed to end stage congestive heart failure [ 18, 19 ]. [pubs.sciepub.com]

• Respiratory Insufficiency

  Pulmonary: Some subtypes are at increased risk for restrictive lung disease leading to respiratory insufficiency due to respiratory muscle weakness; these patients plus those with scoliosis should have routine pulmonary function tests. [now.aapmr.org]

  Patients with early onset tend to have a more severe disorder, and may develop contractures, loss of independent ambulation, and respiratory insufficiency. [mendelian.co]

  insufficiency very late in course (~10%) Pollitt et al Neuromusc Disord 2001;11: 7 Assembly & remodeling of contractile proteins in the sarcomere Zatz & Starling NEJM 2005;352: Mechanisms of action: Assembly & remodeling of contractile proteins in the [slideplayer.com]

• Proximal Muscle Weakness

  Five subjects presented with a slowly progressive proximal muscle weakness, in both upper and lower limbs, with onset during the fourth-fifth decade of life, which fulfilled the consensus diagnostic criteria for LGMD. [moh-it.pure.elsevier.com]

  OMIM : 58 Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs (Bisceglia et al., 2010). [malacards.org]

  LGMD1H is a form of muscular dystrophy characterized by a slow progression of proximal muscle weakness in both upper and lower limbs affecting several members of a four generations Italian AD pedigree presenting variable expressivity and incomplete penetrance [telethon.it]

  Five subjects presented with a slowly progressive proximal muscle weakness, in both… CONTINUE READING From This Paper Figures, tables, and topics from this paper. Citations Publications citing this paper. [semanticscholar.org]

  Five subjects presented with a slowly progressive proximal muscle weakness, in both upper and lower limbs, with onset during the fourth-fifth decade that fulfilled the consensus diagnostic criteria for LGMD. [hal.archives-ouvertes.fr]

• Hypertrophy of Calf Muscles

  of certain muscles such as the calf muscle. [rarediseases.org]

• Hyporeflexia

  […] inheritance Adult onset Skeletal muscle atrophy Areflexia Dysphagia Limb muscle weakness Trophic changes related to pain Autophagic vacuoles Centrally nucleated skeletal muscle fibers Pica Peripheral neuropathy Distal muscle weakness Flexion contracture Hyporeflexia [mendelian.co]

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]

He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.de]

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.it]

"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]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [momentumhealth.net]

[…] corticosteroids in LGMD 2C-F individuals, shows some improvement [9] Additionally individuals can follow management that follows: [3] Occupational therapy Respiratory therapy Speech therapy Neutralizing antibody to myostatin should not be pursued In terms of the prognosis [en.wikipedia.org]

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]

Page 5 of 7 Molecular diagnosis is crucial for genetic counseling and prognosis [23, 24]. An earlier genetic diagnosis provides better disease management and also protects patients from more invasive clinical evaluation [25]. [mafiadoc.com]

Keratoconus (KC) is the most common indication for corneal transplantation in the Western world, with etiologic mechanisms still poorly understood. [scinapse.io]

The role of geneticvariation in the lamin A/C gene in the etiology of polycystic ovarysyndrome. J Clin Endocrinol Metab 2009;94(7):26659.[23] Meinke P, Nguyen TD, Wehnert MS. The LINC complex and humandisease. [docslide.fr]

Diagnosis and etiology of congenital muscular dystrophy: we are halfway there. Ann Neurol. 2016;80:101–11. [PubMed: 27159402] Oliveira J, Gonçalves A, Oliveira ME, Fineza I, Pavanello RC, Vainzof M, Bronze-da-Rocha E, Santos R, Sousa M. [ncbi.nlm.nih.gov]

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]

15 HUMAN AFRICAN TRYPANOSOMIASIS: MECHANSISMS AND PATHOPHYSIOLOGY Marina Bentivoglio, Italy 15:45 Coffee Break SESSION II: NON-COMMUNICABLE DISORDERS IN AFRICA 16:15 EPIDEMIOLOGY OF NON-COMMUNICABLE NEUROLOGICAL CONDITIONS IN AFRICA Rajesh N. [yumpu.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. Citation on PubMed Mitsuhashi S, Kang PB. [medlineplus.gov]

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]

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]

Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord. 2000;10:1–9. [ncbi.nlm.nih.gov]

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

SUB-SAHARAN AFRICA 14:00 EPIDEMIOLOGY OF CNS INFECTIONS IN AFRICA Charles Newton, Kenya 14:15 VIRAL INFECTIONS OF CNS IN AFRICA Macpherson Mallewa, Malawi 14:45 MALARIA IN AFRICA Richard Idro, Uganda 15:15 HUMAN AFRICAN TRYPANOSOMIASIS: MECHANSISMS AND PATHOPHYSIOLOGY [yumpu.com]

Laminin-α2 chain-deficient congenital muscular dystrophy: pathophysiology and development of treatment. Curr Top Membr. 2015;76:31–60. [PubMed: 26610911] Endo T. Glycobiology of α-dystroglycan and muscular dystrophy. J Biochem. 2015;157:1–12. [ncbi.nlm.nih.gov]

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]

This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2. [pubs.sciepub.com]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [momentumhealth.net]

However, the American Academy of Neurology has developed guidelines for treatment of LGMD including: [5] [6] Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the [rarediseases.info.nih.gov]

Passive range of motion is important for prevention of contractures. [now.aapmr.org]

The one exception was classified as a likely pathogenic, consequent to there being only one affected member in the family, thus preventing demonstration of co-segregation with multiple affected individuals (Table 1). [mafiadoc.com]