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Possible Genetic Disorders Associated
with Hypertrophic Cardiomyopathy
Noonan Syndrome |
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Distinctive physical/facial
appearance: broad or webbed neck, short stature,
low set ears, wide set eyes, small jaw, chest
deformity, extra skin folds, congenital heart
defects
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Skeletal malformations, malformations
of blood and lymph vessels, cardiomyopathy, blood
clotting, mild mental retardation.
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Incidence of 1 in 2,500 live
births
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Autosomal dominant inheritance
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50% of cases due to genetic
mutation in PTPN11 gene
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Pompe Disease
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Excess glycogen accumulated
in lysosomes
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Poor muscle tone
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Incidence of 1 in 100,000
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Enzyme deficiency of acid
maltase (glycogen storage disease type II)
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Autosomal recessive disease
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Fatty Acid Oxidation
(carnitine deficiency, CPT, MCAD, VLCAD, LCHAD, LCAD,
SCHAD, glutaric acidemia II, beta oxidation spiral
defects)
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Recurrent episodes of illness
caused by fasting or reduced food intake when
sick, vomiting, severe lethargy that can progress
to coma
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Hypoglycemia, respiratory
distress, congestive heart failure with or without
arrhythmias, muscle weakness, low muscle tone
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Incidence of 1 in 10,000 live
births (MCAD - most common form of FOD)
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Enzyme deficiency related
to the production of energy from fatty acids
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Autosomal recessive inheritance
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Mitochondrial HCM
(complex I, II, III, IV deficiency, myoclonic epilepsy,
mitochondrial myopathy, adenine nucleotide translocator,
MELAS syndrome
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Disturbances of brain and
muscle function
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Dementia, weakness, impaired
hearing, short stature, exercise intolerance,
retinopathy, low muscle tone, respiratory issues
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Enzyme deficiency related
to the production of energy in the mitochondria
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Maternal or autosomal recessive
inheritance
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Possible Genetic Disorders Associated
with Dilated Cardiomyopathy
Barth Syndrome |
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Abnormalities in skeletal
and cardiac muscle, weakness in immune system,
growth retardation or gross motor delays, short
stature, low muscle tone, muscle weakness, increased
levels of certain organic acids in the urine
and blood.
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Occurs exclusively in male
infants. Females can be carriers.
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Due to altered X chromosome
related to mutations in G4.5 or BTHS gene.
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Maternal (X-linked) recessive
inheritance
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50/50 chance of inheritance
if mother is a carrier
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Mitochondrial Defects
(Kearns-Sayre syndrome) |
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Neuromuscular disorder
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Progressive paralysis of certain
eye muscles, chronic inflammation and degeneration
of retina, cardiomyopathy, muscle weakness, short
stature, hearing lost, ataxia
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Defect in mitochondria that
produces energy causing the brain and muscles
to function improperly
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Autosomal dominant, recessive
or maternal inheritance
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For more detailed information on these
diseases and syndromes, visit the Links & Resource section
or review these sites:
National
Organization of Rare Diseases
Barth
Syndrome
Fatty
Acid Oxidation
Noonan
Syndrome
Pompe
Disease
United Mitochondrial
Disease Foundation
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