MCID: NRL012
MIFTS: 7

Neurological Manifestations of Pompe Disease

Categories: Neuronal diseases

Aliases & Classifications for Neurological Manifestations of Pompe Disease

MalaCards integrated aliases for Neurological Manifestations of Pompe Disease:

Name: Neurological Manifestations of Pompe Disease 51 38

Classifications:



Summaries for Neurological Manifestations of Pompe Disease

NINDS : 51 Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.  It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).  Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy.  The enzyme performs its function in intracellular compartments called lysosomes.  Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme.  Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.  Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity.  The severity of the disease and the age of onset are related to the degree of enzyme deficiency.  Early onset (or  the infantile form) is the result of complete or near complete deficiency of GAA.  Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections.  The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues.  Most babies die from cardiac or respiratory complications before their first birthday.  Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA.  The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood.  The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years.  The heart is usually not involved.  A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample.  Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended.  Carriers are most reliably identified via genetic mutation analysis.

MalaCards based summary : Neurological Manifestations of Pompe Disease Affiliated tissues include tongue, testes and lung.

Related Diseases for Neurological Manifestations of Pompe Disease

Symptoms & Phenotypes for Neurological Manifestations of Pompe Disease

Drugs & Therapeutics for Neurological Manifestations of Pompe Disease

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis Completed NCT00830583
2 Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness Recruiting NCT02746718
3 Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. Recruiting NCT02654886
4 Investigating Lysosomal Storage Diseases in Minority Groups Recruiting NCT02120235

Search NIH Clinical Center for Neurological Manifestations of Pompe Disease

Genetic Tests for Neurological Manifestations of Pompe Disease

Anatomical Context for Neurological Manifestations of Pompe Disease

MalaCards organs/tissues related to Neurological Manifestations of Pompe Disease:

39
Tongue, Testes, Lung, Skeletal Muscle, Heart

Publications for Neurological Manifestations of Pompe Disease

Variations for Neurological Manifestations of Pompe Disease

Expression for Neurological Manifestations of Pompe Disease

Search GEO for disease gene expression data for Neurological Manifestations of Pompe Disease.

Pathways for Neurological Manifestations of Pompe Disease

GO Terms for Neurological Manifestations of Pompe Disease

Sources for Neurological Manifestations of Pompe Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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40 MedGen
42 MeSH
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46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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