AMYTROPHIC LATERAL SCLEROSIS

Clinical history

Male, 35yrs with progressive loss of motor neuron strength

CCONGENITAL DISEASES, MALDEVELOPMENT, MIGRATIONAL DISORDERS, VARIANTS

IBACTERIA, RICKETTSIA, FUNGUS,VIRUS, PARASITES, PRION

MMETABOLIC, IMMUNE, GLIOSIS, SCLEROSIS, DEGENERATION

T CONTUSION, HEMATOMAS SUBDURAL, EPIDURAL, TRAUMA COMPLICATIONS, RADIOTERHAPY, CHEMOTHERAPHY

VVASCULAR MALFORMATIONS ( AVM, VENOUS ANOMALY, CAPILLARY, CAVERNOUS ),ANEURYSMS,ANGIOPATHY, INTRACEREBRAL HEMORRHAGE, INFARCT, THROMBOSISDISSECTION NPRIMARYSECONDARY

Diagnosis ?

a.Diffuse encephalomyelitis

b.Multiple embolic cortical infarctions

c.Lyme disease

d.Amyotrophic lateral sclerosis

CCONGENITAL DISEASES, MALDEVELOPMENT, MIGRATIONAL DISORDERS, VARIANTS

IBACTERIA, RICKETTSIA, FUNGUS,VIRUS, PARASITES, PRION

MMETABOLIC, IMMUNE, GLIOSIS, SCLEROSIS, DEGENERATION

T CONTUSION, HEMATOMAS SUBDURAL, EPIDURAL, TRAUMA COMPLICATIONS, RADIOTERHAPY, CHEMOTHERAPHY

VVASCULAR MALFORMATIONS ( AVM, VENOUS ANOMALY, CAPILLARY, CAVERNOUS ),ANEURYSMS,ANGIOPATHY, INTRACEREBRAL HEMORRHAGE, INFARCT, THROMBOSISDISSECTION NPRIMARYSECONDARY

Diagnosis ?

a.Diffuse encephalomyelitis

b.Multiple embolic cortical infarctions

c.Lyme disease

d.Amyotrophic lateral sclerosis

Clinical presentation

• Middle age

• Male predilection

• Autosomal dominant ( some sporadic )

• Significant progressive loss of muscle strenght.

• Intellectual and sensory function preserved

• Death usually in 2 to 6 years from respiratory complications.

Death of motor neurons.

Also known as motor neuron disease or Lou Gehrig's disease.

Variable presentation delays making the diagnosis.

Symptoms include

upper motor neuron signs (hyper-reflexia, spasticity);

lower motor neuron signs (weakness, atrophy, fasciculations);

and bulbar signs (dysphagia and slurred speech).

Most cases are sporadic. About 5-10% of cases are inherited, and of these, superoxide dismutase (SOD1) gene mutations account for 20% of these cases.

Key Diagnostic Features: t

Conventional MRI is important for ruling out other potential etiologies.

It may be normal or may suggest the diagnosis.

15-75% of ALS cases will have FLAIR hyperintensity along the corticospinal tracts.

Other findings include low T2 signal (iron deposition) along the cortex of the pre-central gyrus, and atrophy.

Advanced MR techniques include spectroscopy, magnetization transfer imaging, DTI, and functional MRI may aid in diagnosis, monitoring, and understanding the pathophysiology of ALS.

Treatment

Supportive, plasmapharesis