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Pompe’s Disease

  • Updated August 23, 2021
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Pompe’s Disease is a rare multisystem disorder that attacks the nervous system, skeletal muscles and the heart and usually begins at birth. However, the disease is unique to each person and can remain dormant until adulthood. The disease can take as long as seven to nine years to diagnose in adults and three months in children. Pompe’s disease is rare and impacts about one is every 40,000 people. The disease is a metabolic myopathy that is caused by glycogen accumulation due to a deficiency in acid alpha glucosidase (GAA).

Pompe’s Disease is a terminal and progressive disease in which there is no cure. The only true treatment option is Enzyme Replacement Therapy (ERT). These injections can slow down the disease immensely. The enzymes are taken by injection and are designed to give the body the enzymes and proteins that it is missing. By taking this treatment option, the disease can be slowed down but not stopped (Gerben).

Individuals who develop the disease later in life, rarely have cardiac problems due to the disease. Once the individual develops the disease later in life, the disease cause mobility issues because it degrades the skeletal muscles and also causes respiratory problems. Pompe’s disease in inherited but is rarely developed. This is because the disease is recessive and both parents must have the recessive trait and then the disease only might develop (Pompe’s Disease).

Pompe’s disease impacts the skeletal muscles. The satellite cells fail to activate, and the muscle cells do not regenerate despite the extensive tissue damage. This disease highlights that the activation signal defect of satellite cells compromises muscle repair, which could be related to the abnormal energetic supply following autophagic flux impairment (Lydie). Nemaline bodies, or rods, contain Z-line material and thin filament material (alpha-actinin, actin and tropomyosin with or without desmin at the periphery).

They can be visualized on light microscopy by the Gomori trichrome stain, appearing as dark blue structures localized in the sarcoplasm, predominantly in regions with disrupted sarcomere structure. Nemaline bodies are characteristic histological findings in nemaline body myopathy, a congenital myopathy determined by mutations in different genes. They are usually seen in both type 1 and type 2 muscle fibers, except in patients with TPM3 mutations, where they are limited to type 1 fibers (Frezza).

Works Cited

  1. Frezza, E., et al. “Late-Onset Pompe Disease with Nemaline Bodies.” Case Reports in Neurological Medicine, Sept. 2018, pp. 1–5. EBSCOhost, doi:10.1155/2018/4127213.
  2. Gerben J. Schaaf, et al. “Satellite Cells Maintain Regenerative Capacity but Fail to Repair Disease-Associated Muscle Damage in Mice with Pompe Disease.” Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-16 (2018), no. 1, 2018, p. 1. EBSCOhost, doi:10.1186/s40478-018-0620-3.
  3. Lydie Lagalice, et al. “Satellite Cells Fail to Contribute to Muscle Repair but Are Functional in Pompe Disease (Glycogenosis Type II).” Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-20 (2018), no. 1, 2018, p. 1. EBSCOhost, doi:10.1186/s40478-018-0609-y
  4. “Pompe Disease.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/pompe-disease/.

Cite this paper

Pompe’s Disease. (2021, Aug 23). Retrieved from https://samploon.com/pompes-disease/

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