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Charcot-Marie-Tooth Disease
(Hereditary Motor and Sensory Neuropathy (HMSN) or
Peroneal Muscular Atrophy)
Usual Age of Onset
Childhood to young adulthood
Disease Characteristics
Weakness and atrophy of muscles of hands and lower legs, with foot deformities
and some loss of sensation in feet.
Disease progression usually slow.
Inheritance
Autosomal dominant - inheritable through a faulty gene contributed by either parent; autosomal recessive
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inheritable through a faulty gene contributed by each parent; and X-linked -
inheritable through a gene on the X chromosome contributed by either parent.
Charcot-Marie-Tooth Disease is caused by defects in the genes for proteins found in axons,
fibers that carry electrical signals between the brain and spinal cord and the rest of
the body.
Charcot-Marie-Tooth can also be caused by
defects in the genes for proteins found in myelin,
a coating
on axons that insulates and nourishes them.
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Friedreich's Ataxia
Usual Age of Onset
Childhood to adolescence
Disease Characteristics
Impairment of balance and limb coordination, muscle weakness and loss of sensation.
Severity and progression of disorder vary. Often associated with diabetes and heart disease.
Inheritance
Autosomal recessive - inheritable through a faulty
gene
contributed by each parent
Friedreich's Ataxia occurs because there are defects in the gene that carries instructions for frataxin, a protein found in cellular structures
called mitochondria. The result is
diminished energy production in cells, including those of the nervous system
and heart.
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Dejerine-Sottas Disease
(CMT Type 3 or Progressive Hypertrophic Interstitial
Neuropathy)
Usual Age of Onset
Infancy to early childhood
Disease Characteristics
Delayed development of motor skills. Muscle weakness
affects hands and legs and may
involve impairment of sensation.
Severity and progression of disease vary.
Inheritance
Autosomal dominant - inheritable through a faulty gene contributed by either parent;
autosomal recessive -
inheritable through a faulty gene contributed by each parent.
Dejerine-Sottas is caused by defects in the genes for
proteins found in myelin. Myelin is an insulating and
nourishing coating on axons,
fibers that carry electrical
signals between the brain and spinal cord and the rest of the body.
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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
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