Disease #00087 (Pompe's Disease, OMIM:232300)

Official abbreviation -
Name Pompe's Disease
OMIM ID 232300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene GAA
Associated tissues -
Disease features -
Remarks -


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00000525 Hiew Fu Liong et al.(2014) F Kuala Lumpur Chinese - - - Pompe's Disease progressive proximal muscle weakness over 5-year duration, bilateral upper and lower limbs weakness with reduced effort tolerance and breathing difficulties GAA GAA 2 1 Nur Aisyah Athirah
00000783 Zhong-Ming Ng et al.(2021): http://neurology-asia.org/articles/neuroasia-2021-26(2)-413.pdf M Malaysia Chinese - - - Pompe's Disease He was generally thin and tall. Height: 172cm, Weight:41kg. Upper limb power was Medical Research Council grade 5 in both proximally and distally while lower limbs were grade 4 proximally and grade 5 distally. He had limitation of neck and back flexion and extension but no lordosis or kyphoscoliosis. Gowers sign was negative but Beevor sign was positive. Anterior-Posterior and lateral X-ray of the spine showing a straight spine with only minimal scoliosis and no kyphosis or lordosis. MRI sagittal view of the thoracolumbar spine T1-weighted and Short Tau Inversion Recovery (STIR) sequences showed relatively preserved paravertebral muscles without fat infiltration or inflammation GAA GAA 4 1 Nur Aisyah Athirah
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