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Detailed information of DEJERINE-SOTTAS DISEASE
DEJERINE-SOTTAS DISEASE
DEFINITION:
A hereditary neurological disorder characterized by demyelination
of motor nerves resulting in progressive distal muscle weakness.
EPIDEMIOLOGY:
- incidence: rare
- age of onset:
- risk factors:
- familial - autosomal recessive
- M = F
PATHOGENESIS:
- a group of hereditary disorders characterized by progressive
distal muscle weakness
- also called Peroneal Muscular Atrophy
- motor nerves are predominantly affected with sensory and
autonomic nerve involvement occurring later
- there are 3 clinical variants:
- Type I - Charcot-Marie-Tooth Disease
- Type II
- Type III - Dejerine-Sottas Disease
- can be subdivided into demyelinating (Types I and III) and
non-demyelinating or neuronal (Type II)
- Dejerine-Sottas Disease is differentiated from Charcot-Marie-Tooth
Disease by an autosomal recessive inheritence and an earlier
onset of muscle weakness with subsequent more severe course
2. Genetic Defect
- genetic defect -> demyelination of peripheral motor nerves
-> peroneal and tibial nerves most severely affected ->
progres-sive atrophy of the muscles of the anterior compartment
of the lower legs -> progressive weakness of the distal muscles
of the lower limb with gait disturbances
CLINICAL FEATURES:
- distal muscle weakness
- gross motor developmental delay with infantile hypotonia;
patients may never run properly - pes cavus deformity due to
denervation of the intrinsic foot muscles
- loss of distal deep tendon reflexes -> areflexia
2. Upper Limbs
- distal muscle weakness
- atrophy of muscles of the forearm and hands may occur
but is usually a late finding
- contractures of the wrists and fingers may produce a
"claw hand"
2. Sensory Nerves
- progressive loss of proprioception and vibration sense
with involvement of large myelinated nerve fibres - may also
loose sensation to pain and temperature - tingling or burning
sensations of the feet (rarely pain)
3. Autonomic Nerves
- lack of reaction to light
- Argyll-Robertson pupil
4. Others
INVESTIGATIONS:
2. Nerve Biopsy (Sural Nerve)
- extensive segmental demyelination and remyelination
- hypomyelination
2. Hypertrophic Neuropathy
- characteristic "onion-bulb formations" of proliferated
Schwann cell cytoplasm surrounding axons -> affected nerves
become palpably enlarged
- more pronouned than in Charcot-Marie-Tooth Disease
3. EMG/Muscle Biopsy
- cycles of denervation/reinnervation
4. Cerebral Spinal Fluid
- elevated CSF protein and CPK
MANAGEMENT:
- no treatment for underlying disease
- multidisciplinary approach
- Paediatrics, Neurology, Orthopedics, Physiotherapy
- genetic counselling
2. Physiotherapy
- strengthening exercises to the feet and legs
- active stretching of the feet
- polypropylene ankle-foot orthoses to stabilize feet and
re-duce falling
- special adaptive devices for hands if affected - utensils,
writing
3. Prognosis
- most patients are confined to a wheelchair by the 2nd or 3rd
decade of life
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Pediatric Database - DEJERINE-SOTTAS DISEASE
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