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Understanding Hereditary Neuropathies

Rabecaa Banda gave a presentation on hereditary neuropathies on February 28th, 2011. There are two main types of hereditary neuropathies - hereditary motor and sensory neuropathies and hereditary motor and autonomic neuropathies. Hereditary motor and sensory neuropathies are inherited in an autosomal dominant fashion and include Charcot-Marie-Tooth disease types 1 and 2. Hereditary sensory and autonomic neuropathies are also inherited dominantly and affect sensory nerves, causing insensitivity to pain. Genetic testing and electrophysiological tests can help diagnose hereditary neuropathies, while treatment involves physiotherapy, mobility aids, drug therapy, and a multidisciplinary

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Rabecca Banda Gray
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86 views14 pages

Understanding Hereditary Neuropathies

Rabecaa Banda gave a presentation on hereditary neuropathies on February 28th, 2011. There are two main types of hereditary neuropathies - hereditary motor and sensory neuropathies and hereditary motor and autonomic neuropathies. Hereditary motor and sensory neuropathies are inherited in an autosomal dominant fashion and include Charcot-Marie-Tooth disease types 1 and 2. Hereditary sensory and autonomic neuropathies are also inherited dominantly and affect sensory nerves, causing insensitivity to pain. Genetic testing and electrophysiological tests can help diagnose hereditary neuropathies, while treatment involves physiotherapy, mobility aids, drug therapy, and a multidisciplinary

Uploaded by

Rabecca Banda Gray
Copyright
© Attribution Non-Commercial (BY-NC)
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PPTX, PDF, TXT or read online on Scribd

CLASS PRESENTATION BY RABECCA BANDA 28/02/11

INTRODUCTION
Hereditary neuropathies are inherited

neurological disorders that affect the peripheral nervous system, which consists of nerves and ganglia that lie outside the brain and spinal cord. ( Margo, 2010).

TYPES OF HEREDITARY NEUROPATHIES


There are two many types of hereditary

neuropathies each divided into further subcategories


1. Hereditary

motor

and

sensory

neuropathies
2. Hereditary

motor

and

autonomic

neuropathies

TYPES CONT..
1. HEREDITARY MOTOR AND SENSORY

NEUROPATHY Inherited in an autosomal dorminant fashion Also known as Charcot-Marie-Tooth Two common types (type 1 and type 2) Type 1 demyelinating Type 2 axonal disorder

TYPES CONT..
[Link] 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

TYPES CONT..
Type 2-autosomal recessive condition
Onset of symptoms in early infancy or childhood Upper and lower limbs affected with chronic

ulceration 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 absent tears Many patients die in infancy

TYPES CONT..
Type 4-autosomal recessive
Infants have hyperthemia unrelated to

environmental temperature Type 5-congenital insensitivity to pain Other types HNPP IBPN HNA

PATHOPHYSIOLOGY
Traditionally categorized into two processes
Demyelinating process resulting in low conduction velocity

Axonal process resulting in low potential amplitudes


Axonal damage predicts disability and is root cause

of neuropathy and not demyelination Genes responsible are myelin genes

PATHOPHYSIOLOGY CONT..
Through speculations myelin disturbances leads to axonal damage
Myelinating schwann cells form myelin sheathe

around axon Axonal degeneration leads to Wallerian degeneration Schwann cells dedifferatiate, and mRNA is down regulated Some affected genes include; MPZ,P0, PMP22,MAG

SIGNS AND SYMPTOMS


Motor symptoms predominate over sensory;
Loss of balance Tripping over objects due to footdrop

Weakness
Foot deformities(pes cavus, shortened achilles tendon)

Foot muscle wasting


Sensory (parasthesias)

DIAGNOSIS
Electrophysiological tests
Genetic testing and counselling Gait assessment Muscle strength testing Fatigue testing Sensory testing Functional assessment

TREATMENT
Multidisciplinary problem-solving approach

PHYSIOTHERAPY APPROACH Stretching to prevent contractures Positioning Pain relief Respiratory care Strengthening exercises FUNCTIONAL AND MOBILITY AIDS Orthoses wheelchair

TREATMENT CONT..
DRUG THERAPY Steroids Azathioprine Prednisoline

QUESTIONS???

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