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Pompe Disease

when we suspect Pompe disease?

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Naqa'a Abbas
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32 views27 pages

Pompe Disease

when we suspect Pompe disease?

Uploaded by

Naqa'a Abbas
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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Pompe
Disease

Dr. Naqa’a alzubaidi


What's pompe disease
Clinical presentations
Diagnosis
Treatment
When we suspect PD
POMPE DISEASE
(GLYCOGEN STORAGE DISEASE TYPE II)
Genetically inherited
↓Function of lysosomal acid
α-1,4-GLUCOSIDASE
or
ACID α-GLUCOSIDASE
~ MUTATION of GAA GENE
When too much glycogen is deposited in
muscle cells, the cells become damaged, progressive muscle weakn
and the muscles can no longer function
correctly.
• Dr. Joanes Cassianus Pompe
described Pompe Disease or
Glycogenosis type II in 1932.
• a rare, chronic, and debilitating,
often fatal neuromuscular
disorder with autosomal
recessive transmission.
CLINICAL FORMS based on age of
symptoms onset
• Classic infantile Onset within 3
months of life
• Non-classic infantile Onset
between the first and second year of
life
• Late onset Onset after the first
year of life

childhood adult
• Wide variability in onset age
and clinical presentation
ADULT • Signs and symptoms common
to many other

POMPE acquired/congenital conditions


(e.g., polymyositis, muscular
dystrophy)

DISEAS • Progressive muscle weakness


that can lead to inability to

E walk and respiratory failure


• Can lead to death due to
pulmonary or cardiac
complications
ADULT POMPE DISEASE

• Slow progression and milder


clinical expression allowing for
long survival
• Involvement of skeletal muscles
(predominant) in lower limbs,
pelvic girdle and shoulder girdle,
Hypotonia.
• Absent or mild cardiac
involvement
• Respiratory muscle and
diaphragm impairment
DIGNOSIS
LABORATORY DIAGNOSIS
• Non-specific laboratory
parameters
CK (Creatine kinase), LDH, AST, ALT
Accumulation of glycogen in the
muscle
• Specific tests
Biochemical determination of acid
glucosidase enzyme activity (GAA)
Enzyme activity can be determined in
muscle (muscle biopsy), fibroblasts
(skin biopsy) and purified lymphocytes
Molecular GAA gene mutation
analysis
Diagnosing Late Onset Pompe
Disease

proximal muscle weakness respiratory


asymptomatic
“LGMD-like” insufficiency
hyperCKemia
Dried blood spot (DBS) to measure
acid alpha glucosidase activity
(GAA activity)

reduced GAA activity: normal GAA activity:


Send sample for molecular rule out Pompe disease
testing to confirm diagnosis

2 mutations in GAA: Absence of 2 mutations in


confirms Pompe disease GAA: rule out Pompe disease
THERAPY
• Pharmacotherapy
• Nutrition
• Physical exercise
• Ventilatory assistance
PHARMACOTHERAPY
• Enzyme replacement therapy (ERT) with
recombinant alpha-1,4-acid glucosidase,
MYOZYME infused intravenously has been
available in Italy since 2006. Myozyme replaces
the absent or insufficient enzyme
• Increases survival in the Classic for and
improves cardiac function. The effects on
skeletal muscle are not so evident.
Lumizyme since 2010 is indicated for patients 8
years and older with late (non-infantile) onset
Pompe disease (GAA deficiency) who do not
have evidence of cardiac hypertrophy

Nexviazyme (avalglucosidase alfa) was shown


to improve breathing and motor function for
most people with late-onset Pompe disease
(LOPD).
NUTRITION
At the metabolic level, in
The purpose of the diet is
muscle cells, glycogen
to maintain an adequate
accumulates in lysosomes Proteolysis causing protein
caloric intake and
and anexcessive depletion contributes to
compensate for the
consumption of protein muscle damage
increased protein
occurs as an alternative
catabolism
source of energy

The rationale is to supply Studies prove protein-rich


amino acids as a substrate diets can slow disease
for protein synthesis progression
PHYSICAL EXERCISE

Reduce glycogen storage


and increase the use of fat
as an energy source
PHYSICAL EXERCISE

Maintain muscle tone


• In cases of significant
respiratory deficiency, positive
pressure non-invasive
ventilation(NIV) is used
• In more compromised patients
VENTILATORY (with impaired swallowing and
SUPPORT risk of chronic aspiration, with
THERAPY significant expectoration
deficiency, or with a need for
ventilation>20h) invasive
mechanical ventilation via
tracheostomy may be required.
When we suspect pompe disease?

• Any patients presented with LIMB THINK POMPE DISEASE

• Respiratory symptoms and signs, especially the reduction of


forced vital capacity (FVC) in the supine position; may precede
muscle weakness

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