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Distal Myopathy


Presentation

  • Here, we present a case of genetically confirmed MPD1 with a typical clinical presentation but distinctive light microscopic and ultrastructural findings on muscle biopsy.[ncbi.nlm.nih.gov]
  • The study of a family affected with hereditary distal myopathy with onset in early infancy is presented.[ncbi.nlm.nih.gov]
  • The presenting complaint was footdrop, sometimes leading to delayed walking or tripping, in members of 17 families (81%), with other presentations including cardiomyopathy in infancy, generalized floppiness, and scoliosis.[ncbi.nlm.nih.gov]
  • Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease.[ncbi.nlm.nih.gov]
  • In line with variable severity in Laing distal myopathy our patients presented a more severe phenotype.[ncbi.nlm.nih.gov]
Progressive Dementia
  • Three distal myopathy patients developed rapidly progressive dementia, became bedridden and died of cachexia and pneumonia and VCP gene mutation P137L (c.410C T) was then identified in the family.[ncbi.nlm.nih.gov]
Muscle Contracture
  • Here we show that the phenotype caused by these mutations includes marked cervical muscle contracture, and report that the severity of the phenotype varies significantly, to the extent of non-penetrance in one of the families.[ncbi.nlm.nih.gov]
  • Thus, MYH7 mutations should be sought in patients with severe cervical muscle contractures.[bmcmedgenet.biomedcentral.com]
  • Spinal complications (kyphoscoliosis, spinal rigidity, spinal extensor muscle contractures) in one third of patients Cardiac complications (hypertrophic cardiomyopathy with onset from birth to 3rd decade of life, dilated cardiomyopathy with onset from[ncbi.nlm.nih.gov]
  • The muscle contracture may last for several hours and can be differentiated from a muscle cramps: EMG is electrically silent , and the duration of the contracture is far longer than that of a physiological cramp, which disappears after a few minutes at[sites.google.com]
Hand Stiffness
  • METHODS: We report a case of a patient presenting with childhood onset hand stiffness and adult onset progressive hand weakness and jaw contractures discovered to have two variants in the RYR1 gene.[ncbi.nlm.nih.gov]

Workup

  • To identify and minimize risk, a thorough preoperative workup is indispensable. [2] , [3] If regional anesthesia is planned, a preoperative assessment of peripheral sensory nerve dysfunction should be considered.[ijaweb.org]
  • Aspartate aminotransferase levels Other studies may include the following: Electrocardiography Antinuclear antibody levels Genetic testing Electromyography Magnetic resonance imaging (to assess complications or rule out neurologic disease) Muscle biopsy See Workup[emedicine.medscape.com]
  • A neurologic examination that shows deficits in a single nerve or radicular distribution indicates a possible mononeuritis, entrapment neuropathy, or radiculopathy, and calls for a different workup than that required for a limb paresis in a patient with[aafp.org]
  • Secondary: Postradiation neck extensor myopathy, Anterior scar contracture, Postbotulinum toxin injection, Cushing syndrome, Carnitine deficiency, Hypothyroidism, Hypokalemia, Hyperparathyroidism Other : Malignancy, Postsurgical Diagnostic Workup of Dropped[sites.google.com]
Cytoplasmic Inclusion Bodies
  • This family shows a hereditary distal myopathy with some features in common with previously-reported cases in which biopsies showed cytoplasmic inclusion bodies containing desmin.[ncbi.nlm.nih.gov]
  • inclusion bodies Distal myopathy with spared anterior leg muscles (William's myopathy) (MPD4) 15 Filamin C (Filamin 2; FLNC) ; Chromosome 7q32.1; Dominant Epidemiology: Australian & Italian families Genetics Missense mutations In actin binding domain[neuromuscular.wustl.edu]

Treatment

  • Treatment Treatment Options: Supportive treatment such as physical and respiratory therapies may be helpful but no specific treatment is available for the muscle disease.[disorders.eyes.arizona.edu]
  • Treatment - Distal myopathy Markesbery-Griggs type Specific treatment options may include physical and occupational therapy to improve muscle strength and, when necessary, the use of various devices including braces (e.g., ankle-foot orthosis) or wheelchairs[checkorphan.org]
  • , and in some cases, due to treatment also.[dovemed.com]
  • 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]

Prognosis

  • Prognosis - Distal myopathy Markesbery-Griggs type Not supplied.[checkorphan.org]
  • Prognosis Life expectancy is normal. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis depends on the individual form of MD. In some cases, a person with a muscle disease will get progressively weaker to the extent that it shortens lifespan due to heart and breathing complications.[en.wikipedia.org]

Etiology

  • Thus, the filamentous inclusions occur in different neuromuscular conditions with different etiologies. These findings further raise the question of the specificity of the filamentous inclusions in IBM.[ncbi.nlm.nih.gov]
  • The findings indicate that oculopharyngeal muscular dystrophy and distal myopathy are related in their etiology and distal myopathy and inclusion body myositis are regarded as variant forms of the same disease.[ncbi.nlm.nih.gov]
  • Furthermore, the proband's childhood-onset distal leg weakness and sister's cardiomyopathy suggest that MYH7 p.Arg1820Gln likely affects function, favoring a digenic etiology of the myopathy.[ncbi.nlm.nih.gov]
  • This case report might raise awareness, among clinicians, of the need to interpret NGS data in combination with muscle MRI patterns so as to facilitate the pinpointing of the main molecular etiology in inherited muscle disorders.[ncbi.nlm.nih.gov]
  • OBJECTIVE: To identify the genetic etiology and characterize the clinicopathologic features of a novel distal myopathy.[ncbi.nlm.nih.gov]

Epidemiology

  • : 3 Dutch families Gowers (Laing; Early adult onset distal myopathy type III; MPD1) 3, 4 Myosin heavy chain 7 (MYH7) ; Chromosome 14q11.2; Dominant or Sporadic Epidemiology Australian, German, Italian & Austrian families Genetics: MYH7 mutations Types[neuromuscular.wustl.edu]
  • Summary Epidemiology MPD1 is rare, the prevalence is unknown. Clinical description Age at onset varies from 4 to 5 years to the early twenties.[orpha.net]
  • Summary Epidemiology The estimated prevalence of distal myopathy in the northern region of England is 1/300,000. Some forms have been identified with greater frequency in certain populations.[orpha.net]
  • Epidemiology These are all relatively uncommon diseases: Duchenne muscular dystrophy is easily the most common childhood-onset muscular dystrophy and affects 1 in 3,300 boys. [ 6 ] The prevalence of Duchenne muscular dystrophy is 63 cases per million.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances.[clevelandclinicmeded.com]

Prevention

  • TIA1 has been shown to prevent skipping of SMN2 exon 7, and we show that WDM patients have increased levels of spliced SMN2 in skeletal muscle cells when compared with controls.[ncbi.nlm.nih.gov]
  • Finally, we provide evidence that both proline substitutions impair myosin self-assembly in non-muscle cells transfected with β-myosin constructs carrying the mutations, but do not prevent incorporation of the mutant molecules into the sarcomere.[ncbi.nlm.nih.gov]
  • Late-Onset Distal Myopathy, Markesbery-Griggs type may not be preventable, since it is a genetic disorder.[dovemed.com]
  • TMD, Tardive tibial muscular dystrophy, UDD Myopathy, Udd distal myopathy, Udd-Markesbery muscular dystrophy, Tibial muscular dystrophy Symptoms - Distal myopathy Markesbery-Griggs type Causes - Distal myopathy Markesbery-Griggs type Prevention - Distal[checkorphan.org]
  • Prevention of secondary complications: Stretching exercises to prevent contractures.[ncbi.nlm.nih.gov]

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