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Sarcotubular Myopathy


Presentation

  • 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]
  • Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.[orpha.net]
  • 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]
  • Complex repetitive discharges were present in theanterior tibial and medial vastus muscles. There were nomyotonic discharges.[documents.tips]
  • 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]
Asymptomatic
  • . * The age of onset is 8-27 years; some patients are asymptomatic in their third decade. * Back pain and fatigue are common symptoms. * Progression is slow, with continued ambulation until around 50 years of age or later.[checkorphan.org]
  • The disorder wasthought to be autosomal recessive in nature because theparents of the two boys were asymptomatic, as well asconsanguineous.[docslide.com.br]
  • Heterozygous carriers of TRIM32 mutations gener-ally are asymptomatic, but rare symptomatic carriers havebeen described [9]. Among 8 patients, the onset ranged frombirth to 32 years of age.[documents.tips]
  • .  Moderately in central core disease (CCD) and also in asymptomatic carriers of the ryanodine receptor mutation in CCD.[slideshare.net]
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]
Plethora
  • In view of the plethora of genesinvolved in CMT disease, many modifier genes forCMT might exist in the population.[docslide.com.br]
Calf Hypertrophy
  • Unlike type 2I (see # 607155 ), calf hypertrophy, cardiac symptoms and adverse reactions to general anesthesia are not seen in this condition. Elevated serum creatine kinase levels are seen in both disorders.[wohproject.org]
  • The older brother(UM047) had a more benign course with only slightweakness, mild exercise-induced myalgias, and moder-ate calf hypertrophy.[docslide.com.br]
  • Calf hypertrophy was observed in 6 patients. Fivepatients experienced exercise-induced myalgia, but notmuscle stiffness as in our patient.[documents.tips]
  • Special clinical features: Clinical feature Congenital myopathy Cramps CCD Myopathy with tubular aggregates Calf hypertrophy Centronuclear myopathy Myasthenic fatures Myopathy with tubular aggregates Malignant hyperthermia CCD, Core rod Multimini core[slideshare.net]
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]
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]
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]

Workup

  • 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

Treatment

  • 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]
  • 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]

Prognosis

  • 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]

Etiology

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

Epidemiology

  • 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]
Sex distribution
Age distribution

Prevention

  • 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]

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