Rabies

This is a notifiable disease. This means that all diagnosed cases must be reported to the national Public Health services.

Pathogen: Rabies virus
 

 

 

Myotonic dystrophy type 1

Myotonic disorders

Disease class: Muscular diseases [Musculoskeletal diseases]

Disease class: Muscular diseases [Nervous system diseases]

Types

• Myotonia congenita
• Myotonic dystrophy

Mitochondrial encephalomyopathies

Disease class: brain diseases, Metabolic

Types

• MELAS syndrome 
• MERRF syndrome

Kernicterus

Disease class: brain diseases, Metabolic

Kernicterus is a bilirubin-induced brain dysfunction. 

Spinocerebellar degenerations

Disease class: Cerebellar diseases

Disease class: Spinal cord diseases 

Types

• Friedreich ataxia
• Myoclonic cerebellar dyssynergia
• Olivopontocerebellar atrophies
• Spinocerebellar ataxias

Metabolic brain diseases

Disease class: Brain diseases

Disease class: Metabolic diseases

• brain diseases, Metabolic, Inborn
• Hepatic encephalopathy
• Kernicterus
• Marchiafava-Bignami disease
• Mitochondrial encephalomyopathies
• myelinolysis, Central pontine
• Reye syndrome
• Wernicke encephalopathy 

Intracranial hypotension

Disease class: Brain diseases

Myalgia

Disease class: Muscular diseases [Musculoskeletal diseases]

Disease class: Muscular diseases [Nervous system diseases]

Atrophic muscular disorders

Disease class: Muscular diseases [Musculoskeletal diseases]

Disease class: Muscular diseases [Nervous system diseases]

Types

• Muscular dystrophies
• Postpoliomyelitis syndrome

Myotonic dystrophy

Disease class: Muscular dystrophies

Disease class: Myotonic disorders

Genetics

• In DM1, there is an expansion of the cytosine-thymine-guanine (CTG) triplet repeat in the DMPK gene.
• Genetic anticipation 
• DM2 is caused by a defect of the CNBP gene on chromosome 3. The specific defect is a repeat of the cytosine-cytosine-thymine-guanosine (CCTG) tetranucleotide in the CNBP gene. As it involves the repeat of four nucleotides, it is not a trinucleotide repeat disorder, but rather a tetranucleotide repeat disorder.

Blepharoptosis

Disease class: Eyelid diseases

Also known as

• Ptosis
• Drooping eyelid 

This is caused by dysfunction of the levator palpebrae superioris muscle or the nervous signal to the muscle.

Stroke

Disease class: Cerebrovascular disorders

Also known as

• Apoplexy 
• CVA
• Cerebrovascular accident 
• vascular accident, Brain 

 

Etymology

Stroke stands for "A stroke of apoplexy". αποπληξία(apoplēxía) = a strike from above.

 

Types

• Brain infarction 
• stroke, Lacunar 

 

Risk factors

• Diabetes mellitus
• Essential hypertension

Causes

• Hypertensive emergency

Tourettism

Tourettism refers to a presentation of a patient with signs and symptoms which resemble Tourette syndrome, in the absence of the syndrome itself.

Similar signs

• Chorea
• Myoclonus
• Dystonia
• Torsion dystonia
• Idiopathic dystonia

 

Differential diagnosis

• Down syndrome
• Hepatolenticular degeneration
• Huntington's disease 
• Intellectual disability
• Schizophrenia
• Stereotypic movement disorder

Infectious or post-infectious 

• Encephalitis
• Sydenham's chorea

Drug-induced

• Levodopa
• Carbamazepine
• Lamotrigine
• Phenytoin
• Phenobarbital
• Haloperidol

α-Synucleinopathies

Disease class: Neurodegenerative diseases

Types 

• Dementia with Lewy bodies
• Multiple system atrophy
• Parkinson disease

 

Pathophysiology  

• A Lewy body is a aggregate of alpha-synuclein protein.
• There is a pathological finding of Lewy bodies in neurons.
• There is a pathological finding of abnormal neurites called Lewy neurites.

Dementia with Lewy bodies

Disease class: α-Synucleinopathies

Disease class: Dementia

Disease class: Neurodegenerative diseases 

Disease class: Parkinsonian disorders

Also known as

DLB, Lewy body disease

 

Pathophysiology

DLB is an alpha-synucleinopathy.

 

Epidemiology

• This is the third most common cause of dementia. 

Differential diagnosis

This is a Parkinson-plus syndrome.

Parkinson plus syndromes

Also known as

Disorders of multiple system degeneration

 

Definition

These are diseases which cause symptoms and signs that are characteristic of Parkinson disease. They cause additional features which are not seen in Parkinson disease (until the late stages).

• Multiple system atrophy (MSA)
• Progressive supranuclear palsy (PSP)
• Corticobasal degeneration (CBD)

Sometimes considered a Parkinson-plus syndrome

• Dementia with Lewy bodies (DLB)

 

Pathophysiology

Each disease in this group has a unique pattern of pathological changes, but they all involve degeneration of multiple systems within the central nervous sytem, including the basal ganglia.

Parkinsonian disorders

Poliomyelitis

Disease class: Myelitis
Disease class: Neuromuscular diseases

This is a notifiable disease. This means that all diagnosed cases must be reported to the national Public Health services.

 

Pathogen: Poliovirus

 

Long-term sequelae 

• Postpoliomyelitis syndrome

Subacute Combined Degeneration

Disease class: Demyelinating diseases 
Disease class: Nervous system paraneoplastic syndromes 

Disease class: Spinal cord diseases

This is a degeneration of the spinal cord.

 

Causes

• Paraneoplastic syndrome
• Vitamin B12 deficiency