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CLASS PRESENTATION
BY
RABECCA BANDA28/02/11
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INTRODUCTION
Hereditary neuropathies are inheritedneurological disorders that affect the
peripheral nervous system, whichconsists of nerves and ganglia that lieoutside the brain and spinal cord. (Margo, 2010).
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TYPES OF HEREDITARY
NEUROPATHIESThere are two many types of hereditary
neuropathies each divided into further
subcategories1. Hereditary motor and sensory
neuropathies
2. Hereditary motor and autonomic
neuropathies
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TYPES CONT..1. HEREDITARY MOTOR AND SENSORY
NEUROPATHY
Inherited in an autosomal dorminantfashion
Also known as Charcot-Marie-Tooth
Two common types (type 1 and type 2)
Type 1 demyelinating
Type 2 axonal disorder
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TYPES CONT..2.HEREDITARY SENSORY AND AUTONOMIC
NEUROPATHY
Inherited in a dominant fashion and affect sensory nerves
Loss of unmyelinated fibres produces insensitivity to pain
Five common subtypes
Type 1-rare disorder characterised with loss of sensation
in feet and legs Symptoms occur in late childhood with ulcers and
impaired pain sensation
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TYPES CONT.. Type 2-autosomal recessive condition
Onset of symptoms in early infancy or childhood
Upper and lower limbs affected with chroniculceration and reduced tendon reflex
Autoamputation of distal pharanges
Type 3-autosomal recessive condition New borns have absent or weak suck reflex,
hypotonia and hypothermia,reduced or absenttears
Many patients die in infancy
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TYPES CONT..Type 4-autosomal recessive
Infants have hyperthemia unrelated to
environmental temperatureType 5-congenital insensitivity to pain
Other types
HNPP
IBPN
HNA
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PATHOPHYSIOLOGY Traditionally categorized into two processes
Demyelinating process resulting in low conduction
velocityAxonal process resulting in low potential
amplitudes
Axonal damage predicts disability and is root causeof neuropathy and not demyelination
Genes responsible are myelin genes
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PATHOPHYSIOLOGY CONT.. Through speculations myelin disturbances leads to
axonal damage
Myelinating schwann cells form myelin sheathearound axon
Axonal degeneration leads to Walleriandegeneration
Schwann cells dedifferatiate, and mRNA is downregulated
Some affected genes include; MPZ,P0,
PMP22,MAG
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SIGNS AND SYMPTOMS Motor symptoms predominate over sensory;
Loss of balance
Tripping over objects due to footdropWeakness
Foot deformities(pes cavus, shortened achilles
tendon) Foot muscle wasting
Sensory (parasthesias)
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DIAGNOSISElectrophysiological tests
Genetic testing and counselling
Gait assessment
Muscle strength testing
Fatigue testingSensory testing
Functional assessment
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TREATMENT Multidisciplinary problem-solving approach
PHYSIOTHERAPY APPROACH
Stretching to prevent contractures
Positioning
Pain relief
Respiratory care
Strengthening exercisesFUNCTIONAL AND MOBILITY AIDS
Orthoses
wheelchair
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