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HEREDOTARY NEUROPATHIES

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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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