It is an inborn error of metabolism that belongs to lysosomal storage disorders. Every cell in our body contains vesicles called lysosomes those digest the waste products of the cell.
Synonyms:
Pompe Disease
Acid Maltase Deficiency – AMD
Type II GSD is caused by a lack of function of the enzyme acid alpha-1,4-glucosidase [or acid maltase], which is present in lysosomes. Without the proper function of this enzyme, the glycogen that comes into the lysosomes is not broken down, but continuously accumulates and disrupts the normal functions of the cell. In muscle tissue, these enlarged lysosomes eventually cause the cells to become dysfunctional and die. When muscle cells are injured, their contents spill into the blood.
GSD Type II is a muscle disease that progressively affects skeletal muscle, primarily limb girdle muscles, and muscles involved in respiration. There are three forms of Type II glycogen storage disease. The most common is the infantile form.
Infantile-onset form or Type IIa: in this type infants usually present during early infancy with weakness and flabbiness, are unable to hold up their heads and cannot do other motor tasks common for their age.
HEAD – HOLD – up head, unable to hold
abrot.;1 _ abrot.;1 _ aeth.;2 _ ant-t.;1 _ atro.;1 _ bapt.;1 _ bar-m.;1 _ calc-p.;2 _ carb-v.;1 _ cham.;1 _ con.;1 _ croc.;1 _ cupr.;1 _ gels.;3 _ glon.;1 _ hipp.;1 _ lil-t.;1 _ lyc.;1 _ mag-c.;1 _ mang.;2 _ mez.;1 _ nux-m.;1 _ nux-v.;1 _ olnd.;1 _ op.;2 _ petr.;1 _ phel.;1 _ puls.;2 _ rhus-t.;1 _ sabad.;1 _ sil.;2 _ tab.;1 _ verat.;2 _ zinc.;1
The muscles do not appear wasted. Limb girdle muscles and the muscles involved in respiration are affected. The heart muscle thickens and progressively fails in its pumping function. The patients usually die before 12 months of age due to heart failure and respiratory weakness.
CHEST – HYPERTROPHY – Heart; of
acon.;3 _ aethyl-n.;1 _ aethyl-n.;1 _ aml-ns.;2 _ arn.;2 _ ars.;2 _ aspar.;1 _ aur.;3 _ aur-i.;3 _ aur-i.;3 _ aur-m.;2 _ brom.;2 _ brom.;2 _ cact.;3 _ cact.;3 _ chlol.;1 _ chlol.;1 _ cimic.;1 _ crat.;1 _ crat.;1 _ crat.;1 _ dig.;2 _ ferr.;2 _ glon.;2 _ graph.;2 _ hep.;2 _ iber.;2 _ iod.;2 _ iod.;2 _ kali-bi.;1 _ kali-c.;3 _ kalm.;3 _ lach.;2 _ lith-c.;3 _ lyc.;2 _ lycps-v.;2 _ naja;2 _ nat-m.;2 _ nux-v.;1 _ phos.;2 _ phyt.;1 _ plb.;1 _ prun-v.;1 _ puls.;2 _ rhus-t.;2 _ spig.;2 _ spong.;3 _ spong.;3 _ staph.;1
RESPIRATION – ARRESTED
acet-ac.;1 _ alum.;1 _ anac.;1 _ ang.;1 _ apis;1 _ arn.;1 _ ars.;1 _ bar-c.;1 _ bell.;1 _ borx.;1 _ bry.;3 _ cact.;2 _ calc.;2 _ calc-p.;2 _ camph.;2 _ cann-s.;1 _ caps.;1 _ carb-an.;1 _ carb-v.;1 _ carbn-s.;1 _ castm.;1 _ caust.;2 _ chin.;1 _ cic.;2 _ cina;2 _ cocc.;1 _ con.;1 _ crot-c.;1 _ cupr.;3 _ dios.;1 _ euphr.;1 _ guaj.;1 _ hydr-ac.;1 _ ign.;2 _ iod.;1 _ kali-c.;1 _ kali-i.;1 _ kalm.;1 _ lach.;2 _ lat-m.;2 _ led.;2 _ lyc.;2 _ lyss.;1 _ merc.;1 _ merc-c.;1 _ mosch.;2 _ naja;1 _ nat-m.;1 _ nat-s.;1 _ nit-ac.;1 _ nux-m.;2 _ nux-v.;1 _ oena.;1 _ op.;3 _ phos.;2 _ plat.;1 _ plb.;1 _ puls.;2 _ ruta;2 _ samb.;3 _ sars.;1 _ sep.;1 _ sil.;2 _ stann.;1 _ stram.;1 _ sulph.;2 _ tab.;1 _ tanac.;1 _ ter.;1 _ thea;1 _ ther.;1 _ verat.;2 _ verb.;1
Childhood-onset form or Type IIb: With this form, the disease has a later onset, in infancy or early childhood, and progresses more slowly than the infantile form. Organ involvement varies among the individual patients but muscle weakness is generally seen. The life expectancy is better than for the infantile form.
GENERALS – ATROPHY
ars.;1 _ ars.;1 _ bar-c.;1 _ bar-c.;1 _ calc-sil.;1 _ cetr.;1 _ chin.;1 _ cupr.;1 _ hep.;1 _ iod.;2 _ kali-c.;1 _ kali-p.;1 _ nat-m.;2 _ nux-v.;1 _ phos.;1 _ plb.;1 _ plb-i.;1 _ plb-xyz.;1 _ sabal;1 _ sec.;1 _ stann.;1
GENERALS – PARALYSIS – atrophy, with
cupr.2 _ graph.1 _ kali-p.1 _ plb.2 _ sec.1 _ sep.1
Adult-onset form, Type IIc: Patients with this form of Type II GSD do not usually show signs of organ enlargement, but are marked by muscular weakness mimicking other chronic muscle diseases. Problems with walking are seen, due to weakness of the hip muscles. Some patients have presented with pulmonary (lung) insufficiency due to muscle weakness, and night time breathing is affected. The involvement of the muscle weakness progresses slowly over the years. Heart involvement does not appear to be a significant feature.
GENERALS – FATTY DEGENERATION – organs
ars.;2 _ aur.1 _ calc-ar.1 _ cupr.;2 _ kali-c.;1 _ lac-d.1 _ phos. _ vanad.;1
Diagnosis of Type II GSD is done by determining the activity of the enzyme alpha glucosidase. This deficiency can be shown with a muscle biopsy or cultured cells from a skin biopsy. Biopsied tissues show a great increase of glycogen of normal structure, and microscopic studies show increased glycogen enclosed within the lysosomes.
Treatments for adults and children with Pompe disease is aimed at relieving stress on the muscles. A protein-rich diet is used, along with an intensive daily exercise program. Older patients, in particular, must have intension to prevent pulmonary infections.
CHEST – INFLAMMATION – Lungs
acon.;3 _ acon.;3 _ aesc.;1 _ agar.;2 _ all-c.;2 _ all-c.;2 _ am-c.;1 _ am-m.;1 _ ant-ar.;1 _ ant-c.;2 _ ant-i.;1 _ ant-i.;1 _ ant-t.;3 _ ant-t.;3 _ apis;2 _ arg-n.;2 _ arn.;2 _ ars.;3 _ ars.;3 _ ars-i.;2 _ ars-i.;2 _ ars-s-f.;1 _ arum-t.;1 _ aur-m.;1 _ bad.;2 _ bar-c.;1 _ bar-i.;12 _ bell.;2 _ bell.;2 _ benz-ac.;2 _ brom.;2 _ bry.;3 _ bry.;3 _ cact.;2 _ cact.;2 _ calc.;2 _ calc-s.;1 _ calc-s.;1 _ calc-sil.;1 _ camph.;1 _ cann-s.;2 _ cann-s.;2 _ canth.;1 _ caps.;1 _ carb-ac.;1 _ carb-ac.;1 _ carb-an.;2 _ carb-v.;3 _ carbn-s.;2 _ chel.;3 _ chel.;3 _ chin.;2 _ chin-b.;1 _ chin-b. _ chlor.;2 _ con.;2 _ cop.;1 _ corn.;1 _ corn-f.;1 _ crot-h.;1 _ cupr.;2 _ cupr.;2 _ dig.;2 _ dulc.;1 _ elaps;2 _ elaps;2 _ eup-per.;1 _ ferr.;2 _ ferr-ar.;2 _ ferr-i.;2 _ ferr-i.;2 _ ferr-p.;3 _ ferr-p.;3 _ gels.;2 _ hep.;3 _ hep.;3 _ hippoz.;2 _ hyos.;2 _ hyos.;2 _ iod.;2 _ ip.;2 _ kali-ar.;1 _ kali-bi.;2 _ kali-br.;2 _ kali-c.;2 _ kali-chl.;2 _ kali-i.;2 _ kali-m.;1 _ kali-n.;2 _ kali-n.;2 _ kali-p.;2 _ kali-p.;2 _ kali-s.;2 _ kreos.;2 _ lach.;2 _ lach.;2 _ lachn.;2 _ laur.;2 _ lob.;3 _ lyc.;3 _ lyc.;3 _ lycps-v.;1 _ meli-xyz.;1 _ merc.;3 _ mill.;2 _ myrt-c.;1 _ nat-ar.;12 _ nat-m.;2 _ nat-s.;2 _ nit-ac.;2 _ nux-v.;1 _ ol-j.;1 _ op.;1 _ ph-ac.;2 _ phos.;3 _ phos.;3 _ podo.;1 _ podo.;1 _ psor.;2 _ puls.;3 _ pyrog.;1 _ ran-b.;1 _ rhus-t.;3 _ rhus-t.;3 _ rumx.;1 _ sabad.;2 _ sang.;2 _ sec.;12 _ seneg.;3 _ seneg.;3 _ sep.;3 _ sil.;2 _ spig.;1 _ spong.;1 _ squil.;2 _ squil.;2 _ stram.;2 _ sul-ac.;1 _ sul-i.;12 _ sulph.;3 _ sulph.;3 _ sumb.;1 _ ter.;2 _ tub.;1 _ tub.;1 _ verat.;2 _ verat.;2 _ verat-v.;3 _ verat-v.;3
Dr. Rajneesh Kumar Sharma
Homoeo Cure & Research Centre P. Ltd.
NH 74, Moradabad Road, Kashipur (Uttaranchal) 244713 India
Ph- 05947- 275535, 260327, 274338, 277418
Fax- 274338, 275535; Cells- 98 976 18594, 98 976 21896
drrajneeshhom@hotmail.com, drrajneshhom@yahoo.co.in