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Friedreich’s Ataxia definition

Progressive autosomal recessive neurological disorder causing ataxia cardiomyopathy and sensory loss

Friedreich’s Ataxia genetic cause

Mutation of frataxin gene on chromosome nine with GAA repeat expansion leading to reduced frataxin

Friedreich’s Ataxia pathophysiology

Mitochondrial dysfunction decreased ATP production oxidative stress and neuronal cell death

Friedreich’s Ataxia neurological signs

Ataxia dysarthria loss of proprioception loss of vibration sense lower extremity areflexia positive Babinski sign

Friedreich’s Ataxia musculoskeletal findings

Scoliosis pes cavus foot deformities

Friedreich’s Ataxia cardiac complication

Hypertrophic cardiomyopathy leading cause of death

Friedreich’s Ataxia endocrine complication

Diabetes mellitus due to pancreatic beta cell loss

Friedreich’s Ataxia onset age

Typically between ten and fifteen years old

Friedreich’s Ataxia diagnosis

Genetic testing identifying frataxin gene mutation and GAA repeats

Friedreich’s Ataxia physical therapy considerations

Maintain mobility prevent falls monitor cardiopulmonary status

Cytomegalovirus definition

Double stranded deoxyribonucleic acid virus in herpesvirus family that remains latent

Cytomegalovirus transmission

Spread through bodily fluids such as saliva blood urine and sexual contact

Cytomegalovirus risk factors

Immunocompromised state human immunodeficiency virus transplantation malnutrition

Cytomegalovirus symptoms in healthy individuals

Fatigue sore throat swollen lymph nodes muscle aches

Cytomegalovirus symptoms in immunocompromised individuals

Pneumonitis retinitis encephalitis gastrointestinal disease

Cytomegalovirus congenital symptoms

Hearing loss microcephaly seizures developmental delay

Cytomegalovirus diagnosis

Serologic antibody testing or polymerase chain reaction testing in newborns

Cytomegalovirus treatment

Antiviral medications such as ganciclovir valganciclovir

Cytomegalovirus physical therapy considerations

Monitor fatigue neurological symptoms and systemic illness

Neurofibromatosis type one inheritance

Autosomal dominant genetic disorder

Neurofibromatosis type one hallmark sign

Cafe au lait spots six or more suggest diagnosis

Neurofibromatosis type one pathophysiology

Mutation of neurofibromin tumor suppressor protein causing uncontrolled cell growth

Neurofibromatosis type one tumors

Neurofibromas and optic gliomas

Neurofibromatosis type one neurological findings

Learning disabilities attention deficit hyperactivity disorder cognitive dysfunction

Neurofibromatosis type one musculoskeletal findings

Kyphoscoliosis osteopenia osteoporosis

Neurofibromatosis type one complication

Malignant peripheral nerve sheath tumors

Neurofibromatosis type one management

Monitoring and surgical removal of symptomatic tumors

Normal pressure hydrocephalus definition

Accumulation of cerebrospinal fluid causing ventricular enlargement with normal intracranial pressure

Normal pressure hydrocephalus classic triad

Gait disturbance cognitive impairment urinary incontinence

Normal pressure hydrocephalus most common symptom

Gait disturbance with wide base and short steps

Normal pressure hydrocephalus diagnosis

Magnetic resonance imaging or computed tomography showing enlarged ventricles

Normal pressure hydrocephalus confirmatory test

Lumbar puncture with removal of cerebrospinal fluid and symptom improvement

Normal pressure hydrocephalus treatment

Ventriculoperitoneal shunt placement

Normal pressure hydrocephalus physical therapy focus

Gait training balance and functional mobility

West Nile virus transmission

Spread through bite of infected Culex mosquito

West Nile virus asymptomatic rate

Approximately eighty percent of individuals

West Nile virus mild symptoms

Fever headache body aches rash gastrointestinal symptoms

West Nile virus severe complications

Encephalitis meningitis acute flaccid paralysis

West Nile virus neurological signs

Weakness paralysis tremors seizures cognitive impairment

West Nile virus treatment

Supportive care including fluids and symptom management

Toxoplasmosis cause

Infection by Toxoplasma gondii parasite

Toxoplasmosis transmission

Undercooked meat or exposure to cat feces

Toxoplasmosis common presentation

Often asymptomatic

Toxoplasmosis severe symptoms

Central nervous system infection seizures confusion ocular disease

Toxoplasmosis diagnosis

Immunoglobulin M and immunoglobulin G antibody testing

Toxoplasmosis treatment

Antiparasitic medications such as pyrimethamine and sulfadiazine

Amyotrophic lateral sclerosis definition

Progressive neurodegenerative disease affecting upper and lower motor neurons

Amyotrophic lateral sclerosis pathophysiology

Motor neuron degeneration leading to muscle weakness atrophy and spasticity

Amyotrophic lateral sclerosis early symptoms

Distal weakness fasciculations muscle cramps dysarthria

Amyotrophic lateral sclerosis late symptoms

Dysphagia respiratory failure paralysis

Amyotrophic lateral sclerosis diagnosis

Electromyography nerve conduction studies and exclusion of other conditions

Amyotrophic lateral sclerosis prognosis

Typically fatal within two to five years

Amyotrophic lateral sclerosis cause of death

Respiratory failure

Post polio syndrome definition

New onset muscle weakness years after recovery from poliomyelitis

Post polio syndrome onset

Ten to forty years after initial infection

Post polio syndrome symptoms

Progressive weakness fatigue muscle pain joint pain

Post polio syndrome pathophysiology

Degeneration of enlarged motor units from prior reinnervation

Post polio syndrome management

Energy conservation low intensity exercise assistive devices

Charcot Marie Tooth disease definition

Inherited peripheral neuropathy affecting myelin or axons

Charcot Marie Tooth disease common type

Type one A caused by peripheral myelin protein twenty two gene duplication

Charcot Marie Tooth disease pathophysiology

Demyelination or axonal degeneration causing decreased nerve conduction

Charcot Marie Tooth disease clinical features

Distal muscle weakness sensory loss foot deformities such as pes cavus

Charcot Marie Tooth disease diagnosis

Electromyography nerve conduction studies and genetic testing