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Electro diagnostic Studies prove the diagnosis , determine the extent of the disease
Determine the type of neuropathy ether demyelination or axonal
Nerve biopsy
Vasculitis,Amyloidosis, Sarcoidosis, Hansen's disease (leprosy]
complete blood count, sedimentation rate, chemistry profile, fasting blood sugar, thyroid
studies, vitamin B12 level, and serum protein electrophoresis with immunofixation
electrophoresis , nasal swab for leprosy
Acute post infective demylinating
poly neuropathy
two thirds of patients report a preceding event, most frequently an
upper respiratory or gastrointestinal infection Campylobacter
jejuni, surgery, or immunization 14 weeks before the onset of
neurological symptoms
Acute Inflammatory Demyelinating
Polyradiculoneuropathy (Guillain-Barre Syndrome]
Acute Inflammatory Demyelinating Polyradiculoneuropathy (Guillain-Barre Syndrome)
motor weakness, areflexia, paresthesias with slight sensory loss, and increased protein
in CSF without pleoeytosis (albuminocytological dissociation). The frequent finding
of motor conduction block and reduced NCVs provided electrophysiological
confirmation of widespread demyelination
mechanical ventilation
regular turning and attention to skin, eyes, mouth, bowel, and bladder
Physical therapy
inactivation of one of allelic genes that encodes for an enzyme of the heme biosynthetic
pathway this provokes a compensatory overproduction of porphyrins and their precursors
Only a few patients progress to develop the more ominous motor neuropathy with
generalized, proximal, or asymmetrical muscle weakness developing over days or
weeks
Ataxia imbalance and incoordination involving either gait and limbs it is
either due to
a disorder involving the cerebellum or its connections or due to
proprioceptive disorder Types
1. truncal ataxia
2. gait ataxia
3. appendicular ataxia
sensory ataxia
Cerebeller ataxia
Neurological Signs
1. Stance and gait :
tandem gait
Romberg test
Ataxic gait is characterized by a widened base and an irregular staggering
appearance
2. Limb incoordination
finger-to-nose test
heel-to-shin maneuver
Rebound phenomena
Romberg test + Impaired position and vibration sense and the deep tendon
reflexes
1. Stroke intracerebral he
2. Genetic
3. Ataxic cerebral palsy,
4. Infections like acute cerebellitis, abscess;
5. posterior fossa tumors like cerebellar gliomas, ependymomas, pontine glioma;
meningiomas
6. vascular malformations;
7. congenital anomalies like Arnold-Chiari malformation;
8. toxic such as anticonvulsants;
9. immune related to neoplasm's, especially opsoclonus-myoclonus anti-GAD and
anti-gliadin antibodies
10. MS
11. alcohol;
12. Hypothyroidism
13. Toxic: mercury;
Friedreich '$ Ataxia
spinocerebeller disease
age at onset of younger than 25 years, typically early in adolescence
1--Onset is with increasing gait difficulties and neurological examination reveals
gait ataxia, loss of proprioceptive sense in the lower limbs, and absence of deep
tendon reflexes, cither generalized or in the lower limbs
2- Skeletal deformity
3--upper motor neuron findings such as extensor plantar responses and
4- Optic atrophy
about 9-15 years after onset lose ambulation increasing ataxia of both upper
and lower limbs, profound proprioceptive loss, areflexia, weakness of lower
limb muscles, dystonia, flexor spasms, and increasing dysarthria and dysphagia
Optic atrophy and hearing loss may occur in many patients
Systemic abnormalities abnormal electrocardiogram recordings, hypertrophic
cardiomyopathy in about 50% of the patients, and diabetes in 10%. Skeletal
abnormalities such as spinal deformities and foot deformities are common
The mean age at death --late in the fourth decade---Cause of death is usually cardiac
MRI scans of the brain reveal no abnormalities in the cerebellum; rather, the upper
cervical cord shows atrophy
Nerve conduction studies show early absence or reduction of sensory nerve potentials
in a diffuse fashion
A tax ia-Telangiectasia the disease has its onset in the first decade. Children
develop progressive ataxia associated with hypotonia, areflexia, peripheral
neuropathy, and choreoarhetosis
Telangiectasias develop over the conjunctivae ,
ear lobes, and other areas during the second half of the first
decade.
Many patients have decreased immunoglobulin A (IgA) levels; decreased munoglobulin
E and immunoglobulin M levels, lymphocytopenia