Symptoma

Sarcotubular Myopathy

LGMDR8

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]

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]

At the present time it is unclear how mutations in one protein can result in such dissimilar phenotypes as muscular dystrophy and BBS. Mutations in result in two distinct hereditary disorders. [sciencepop.org]

Complex repetitive discharges were present in theanterior tibial and medial vastus muscles. There were nomyotonic discharges. [documents.tips]

  • 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]

  • Fishing

    In the muscle of DNM2-S619L fish, we also find substantial disorganization of the t-tubule and SR on muscle ultrastructure. [deepblue.lib.umich.edu]

    Improved testing forCMT1A and HNPP using multiplex ligation-dependentprobe amplification (MLPA) with rapid DNA preparations:comparison with the interphase FISH method. Hum Mutat2004;24:164171.6. Street VA, Bennett CL, Goldy JD, et al. [docslide.com.br]

  • Plethora

    In view of the plethora of genesinvolved in CMT disease, many modifier genes forCMT might exist in the population. [docslide.com.br]

  • Proximal Muscle Weakness

    muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. [orpha.net]

    The younger brother (UM048) had moder-ate proximal muscle weakness by 8 years old. [docslide.com.br]

    muscle weakness and normal creatine kinase level.b Heterozygous daughter developed early-onset exercise-induced myalgia and had mildly elevated creatine kinase levels.c Clinical or electrophysiological features of neuropathy.T.Liewlucketal. [documents.tips]

    […] slowly Progressive •Respiratory muscles •Non progressive minimal facial muscle involvement •Minimal proximal muscle weakness •Benign course 23. [slideshare.net]

    Nalini et al. [78] identified two such patients who had lower-limb proximal muscle weakness with foot drop, severe wasting of tibialis anterior. [annalsofian.org]

  • Quadriceps Muscle Weakness

    (redirected from sarcotubular myopathy ) limb girdle muscular dystrophy type 2H A clinically variable, autosomal recessive degenerative myopathy (OMIM:254110) characterised by pelvic girdle, shoulder girdle and quadriceps muscle weakness. [medical-dictionary.thefreedictionary.com]

    muscle weakness Abnormality of metabolism/homeostasis CREATINE PHOSPHOKINASE INCREASED Abnormality of the musculature ... ... [familydiagnosis.com]

  • 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]

  • Positive Gower's Sign

    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]

  • Mask-like Facies

    Symptoms of Sarcotubular myopathy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Mask-like facies Neck flexor weakness Weakness of face muscles Abnormality of limbs Calf muscle pseudohypertrophy Quadriceps [familydiagnosis.com]

  • Mild Facial Weakness

     Onset is at birth or in early childhood  Nonprogressive limb weakness, mild facial weakness, and hypotonia.  Skeletal abnormalities include congenital hip dislocation, kyphoscoliosis, and foot deformities. 28. [slideshare.net]

  • Onset in Adolescence

    AD variant: Mutations in dynamin 2 (DNM2) Most patients have a mild phenotype Onset in adolescence or adulthood Axial as well as distal more than proximal limb weakness and slow progression. [slideshare.net]

  • 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]

    Most Hutterite patients have a mild phenotype, with limb-girdle weakness and a waddling gait at presentation. The proximal arm muscles and the distal leg muscles are involved late. [emedicine.medscape.com]

  • Gowers Sign

    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]

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]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

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]

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: 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]

The Congenital Muscle Disease International Registry (CMDIR) was created to identify the global congenital muscle disease population for the purpose of raising awareness, developing standards of care, and implementing clinical trials in pursuit of treatments [dnatesting.uchicago.edu]

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]

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]