|
|
Phosphorylase Deficiency
(McArdle's Disease)
Usual Age of Onset
Childhood to adolescence
Disease Characteristics
Muscle cramps often occur after exercise. Intense
exercise can cause muscle destruction
and possible
damage to kidneys.
Reducing strenuous exercise can lessen severity.
Inheritance
Autosomal recessive, or caused by the contribution
of a defective gene from each parent.
Phosphorylase deficiency occurs because of a
genetic
defect in the phosphorylase enzyme,
which
affects the breakdown of glycogen, the stored form of glucose (sugar).
Back to Top
Acid Maltase Deficiency
(Pompe's Disease)
Usual Age of Onset
Infancy to adulthood
Disease Characteristics
For infants, disease is generalized and severe
with heart,
liver, and tongue enlargement common.
Adult form involves weakness of upper arms, legs,
trunk, and respiratory
muscles.
Progression varies.
Inheritance
Autosomal recessive, or by the contribution of a
defective gene from each parent.
Acid maltase deficiency is caused by a defect
in the
gene
for the acid maltase enzyme
(also known as
acid alpha-gluocosidase),
which affects the storage
and breakdown of glycogen.
Back to Top
Phosphofructokinase Deficiency
(Tarui's Disease)
Usual Age of Onset
Childhood to adulthood
Disease Characteristics
Muscle fatigue which upon exercise can lead to
severe
cramps, nausea, vomiting, muscle damage,
and
discoloration of urine.
Progression varies.
Inheritance
Autosomal recessive, or disease develops by the
contribution of a defective gene from each parent.
Phosphofructokinase deficiency is caused by a
genetic
defect in the phosphofructokinase enzyme,
which affects the storage and breakdown of glucose.
Back to Top
Debrancher Enzyme Deficiency
(Cori's or Forbes' Disease)
Usual Age of Onset
Early childhood to adulthood
Disease Characteristics
Generalized weakness and muscle wasting. Heart
involvement and
enlarged liver may occur with
infantile form. Episodes of low blood sugar are
common.
Variable progression. Muscle symptoms may be
delayed
until teens or adulthood.
Inheritance
Autosomal recessive, or disease develops by the
contribution of a defective gene from each parent.
Debrancher enzyme deficiency occurs because a
genetic defect in the debrancher enzyme,
which affects
the
breakdown of glycogen, the stored form of
glucose (sugar).
Back to Top
Mitochondrial Myopathy
Usual Age of Onset
Early childhood to adulthood
Disease Characteristics
Generalized muscle weakness with droopy eyelids
and
inability to walk. Brain is often
involved, with
seizures,
deafness, loss of balance and vision, and retardation
common.
Progression and severity vary widely.
Inheritance
Varies according to disease.
Mitochondrial myopathy is caused by defects in genes
that produce proteins that process food into
energy inside cells;
the protein affected determines
which of the mitochondrial diseases is present.
Back to Top
Carnitine Deficiency
Usual Age of Onset
Early childhood
Disease Characteristics
Varied weakness of shoulder, hip, face, and neck muscles.
Progression varies and carnitine supplementation
can be effective.
Inheritance
Autosomal recessive, or disease develops by the contribution of a defective gene from each parent.
Either a defect in a gene for a protein that brings carnitine
into the cell;
or a deficiency of carnitine secondary to
other metabolic diseases causes carnitine deficiency.
Back to Top
Carnitine Palmityl Transferase Deficiency
Usual Age of Onset
Young adulthood
Disease Characteristics
Inability to sustain moderate prolonged exercise. Prolonged exercise and/or
fasting can cause severe muscle destruction with urine discoloration and kidney damage.
Severity varies.
Inheritance
Autosomal recessive, or disease develops by the
contribution of a defective gene from each parent.
A genetic defect in the carnitine palmityl transferase enzyme,
which affects the breakdown of free fatty acids causes
carnitine palmityl transferase deficiency.
Back to Top
Phosphoglycerate Kinase Deficiency
Usual Age of Onset
Childhood to adolescence
Disease Characteristics
Muscle pain and weakness, with muscle damage and
urine discoloration possible after vigorous exercise.
Severity
varies.
Inheritance
X-linked recessive.
Phosphoglycerate kinase deficiency is caused
by a genetic defect in the phosphoglycerate kinase
enzyme, which affects the processing of carbohydrates
for fuel.
Back to Top
Phosphoglycerate Mutase Deficiency
Usual Age of Onset
Childhood to adulthood
Disease Characteristics
Muscular pain, cramps, muscle damage and urine
discoloration possible following
intense exercise of brief duration.
Severity varies.
Inheritance
Autosomal recessive, or caused by the contribution of a defective gene from each parent.
Phosphoglycerate mutase deficiency occurs when there is a genetic defect in the phosphoglycerate mutase enzyme,
which affects the processing of carbohydrates for fuel.
Back to Top
Lactate Dehydrogenase Deficiency
Usual Age of Onset
Childhood to adolescence
Disease Characteristics
Intolerance of intense exercise with muscle damage and
urine discoloration possible
following strenuous physical activity.
Severity of disorder varies.
Inheritance
Autosomal recessive, or by the contribution of a defective
gene from each parent.
Lactate dehydrogenase deficiency is caused by a genetic defect in the lactate dehydogenase enzyme,
which affects the processing of carbohydrates.
Back to Top
Myoadenylate Deaminase Deficiency
Usual Age of Onset
Early adulthood to middle age
Disease Characteristics
Muscle fatigue and weakness during and after exertion, with muscle soreness or cramping.
Condition is nonprogressive and severity varies.
Inheritance
Autosomal recessive, or disease develops by the contribution of a defective gene from each parent.
Myoadenylate deaminase deficiency is caused by a genetic defect in the myoadenylate deaminase enzyme,
which affects the cell's ability to recycle ATP.
Back to Top
|
Neuromuscular Diseases included in MDA's Programs
Muscular Dystrophies
Motor Neuron Diseases
Inflammatory Myopathies
Diseases of Neuromuscular Junction
Diseases of Peripheral Nerves
Metabolic Diseases of Muscle
Myopathies Due to Endocrine Abnormalities
Other Myopathies
Research
FAQs
Purchase Wristbands
|
Donate