Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. [orpha.net]

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

PY - 1973 Y1 - 1973 N2 - Two brothers, presently 15 and 11 yr old, of a Hutterite colony and consanguineous parentage, have had nonprogressive muscle weakness since infancy. [mayoclinic.pure.elsevier.com]

Clinical signs of lower limb and pelvic girdle weakness are often present by the age of six years, with slow progression to the need for assisted locomotion by the second and third decade. [wohproject.org]

Here we describe a three generation Swedish family clinically presenting with limb girdle muscular weakness and histological features of a microvacuolar myopathy. [ncbi.nlm.nih.gov]

• Pain

  * Back pain and fatigue are common symptoms. * Progression is slow, with continued ambulation until around 50 years of age or later. Symptoms - Limb-girdle muscular dystrophy type 2H Not supplied. [checkorphan.org]

  Muscle disorders can cause weakness, pain or even paralysis. [icdlist.com]

  Muscle pain was the prominent symptom (47%). In upper limb, deltoid and biceps were weak and wasted. Ambulation was maintained till late in the disease course. [annalsofian.org]

  Immu-nocytochemical studies for dystrophin, sarcoglycans, cal-pain-3, dysferlin, caveolin-3, a-dystroglycan, merosin andemerin were normal. [documents.tips]

  Back pain and fatigue are common. Progression is slow, with continued ambulation until around 50 years of age or later. [emedicine.medscape.com]

• Fatigue

  * Back pain and fatigue are common symptoms. * Progression is slow, with continued ambulation until around 50 years of age or later. Symptoms - Limb-girdle muscular dystrophy type 2H Not supplied. [checkorphan.org]

  Some present with easy fatigue. Patients may complain of difficulty climbing stairs or fixing their hair in the morning. These disorder can be due to genetic disorders, inflammatory disorders and metabolic disorders among others. [hickoryneurology.net]

  Back pain and fatigue are common. Progression is slow, with continued ambulation until around 50 years of age or later. [emedicine.medscape.com]

• Pathologist

  This is a very simple and minor outpatient procedure in which a small sample of a part of a muscle is removed from a small incision and subsequently analyzed by the pathologist. [hickoryneurology.net]

  PMID: 23143600 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

• Myalgia

  Eosinophilia myalgia syndrome (L-tryptophan myopathy) Diagnosis: The diagnosis of most myopathies involves a combination of laboratory studies and nerve conduction studies with specific testing of the muscles. [hickoryneurology.net]

  The older brother(UM047) had a more benign course with only slightweakness, mild exercise-induced myalgias, and moder-ate calf hypertrophy. [docslide.com.br]

  Fivepatients experienced exercise-induced myalgia, but notmuscle stiffness as in our patient. Although 4 reported sarco-tubular myopathy patients had winged scapulae, unlike ourpatient, none of them had predominant distal weakness orcalf atrophy. [documents.tips]

  Patients may also present with elevation of CK levels without weakness but with myalgia and cramps, distal weakness, hypertrophic cardiomyopathy, or rippling-muscle disease. [emedicine.medscape.com]

  Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis. 2012;35:1119-28. [uniklinikum-dresden.de]

• Winged Scapula

  By 31years old, he could walk no further than 10 to 20m,experienced increasingly severe exercise-induced myal-gias, and had winged scapulae, hypertrophied calf mus-cles, and a positive Gowers sign. [docslide.com.br]

  Although 4 reported sarco-tubular myopathy patients had winged scapulae, unlike ourpatient, none of them had predominant distal weakness orcalf atrophy. [documents.tips]

• Osteoporosis

  Similarities in acquired factors related to postmenopausal osteoporosis and sarcopenia. J Osteoporos 2011 ; 2011 : 536735. 90 von Haehling S, Morley JE, Coats AJ, Anker SD. [jcsm.info]

• Waddling Gait

  * Most patients have a mild phenotype, with limb-girdle weakness and a waddling gait at presentation. [checkorphan.org]

  Weakness in the legs is the most prominent and often results in a waddling gait and difficulty in climbing stairs and standing up from a squatting position. [wohproject.org]

  The patient's gait is unique, with a waddling component combined with inability to raise his or her heels off the ground. [emedicine.medscape.com]

We conclude from this study that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs. [institut-myologie.org]

• Creatine Phosphokinase Increased

  PHOSPHOKINASE INCREASED Abnormality of the musculature ... ... [familydiagnosis.com]

Treatment: Physical therapy and exercise may be of benefit early. Prognosis: Poor. Most patients become wheelchair bound in the second and third decades. Ancillary treatments and support: General support. [wohproject.org]

There is little known about the muscle dysfunction underlying this disorder, and there are currently no treatments. The goal of this work is to gain greater insight into the role of DNM2 in normal muscle function and disease-related pathology. [deepblue.lib.umich.edu]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment There is no available treatment for these myopathies. However, providing orthosis for correction of skeletal deformities or even surgical correction often leads to improvement of functional disabilities. [healthcentral.com]

Treatment - Limb-girdle muscular dystrophy type 2H Not supplied. Resources - Limb-girdle muscular dystrophy type 2H Not supplied. [checkorphan.org]

Prognosis - Limb-girdle muscular dystrophy type 2H This depends upon the type. In general slow progression of weakness is to be expected. The affected muscles get worse and it spreads to more muscles. [checkorphan.org]

Prognosis: Poor. Most patients become wheelchair bound in the second and third decades. Ancillary treatments and support: General support. Specialists and specialty centers: Orthopedist, Physical Therapist, Pediatrician. [wohproject.org]

Prognosis: variable course Diagnosis : Histopathology: • More type 1 fibres than type 2. • Within these fibres, there are structures which are called ‘cores’; which can be seen under the microscope. [slideshare.net]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Current consensus definition: prevalence, etiology, and consequences. International working group on sarcopenia. [jcsm.info]

Boito et al ., had studied 214 patients with LGMD of unknown etiology. [neurologyindia.com]

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012 Jan. 71(1):141-5. [Medline]. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M. [emedicine.medscape.com]

Standardising the descriptive epidemiology of osteoporosis: recommendations from the Epidemiology and Quality of Life Working Group of IOF. Osteoporos Int 2013 ; 24 : 2763 – 2764. 84 Kim KM, Jang HC, Lim S. [jcsm.info]

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016; 43(1):163-77. PMID: 26786644 Lemmers, RJ, et al. [invitae.com]

Epidemiology: Worldwide: Incidence:6 per 100,000 live births or 1/10th of all neuromuscular disorders. [slideshare.net]

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

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]

Prevention - Limb-girdle muscular dystrophy type 2H Not supplied. Diagnosis - Limb-girdle muscular dystrophy type 2H Patients may have a late onset, slow progression, no cardiac symptoms, but mild ECG changes. [checkorphan.org]

Surgical Care • Orthopedic surgery is often necessary in patients who live several years with their disease to prevent contractures and scoliosis Post scoliosis Surgery: 78. [slideshare.net]

The use of different diagnostic methods may lead to different prevalence of sarcopenia and may therefore have significant consequences on preventive or therapeutic strategies. Body compartments based on reference man. [jcsm.info]

With widespread use of genetic tests, genetic counseling, antenatal diagnosis, and preventive measures are expected to be in the forefront in the coming years. Financial support and sponsorship Nil. [annalsofian.org]