Category: Disease
Creutzfeldt-Jakob Disease (CJD)
German neurologists Hans Gerhard Creutzfeldt and Alfons Maria Jakob discovered CJD in the 1920’s.
Disease
CJD is a group of fast acting, fatal (usually less than 1 year) neurological diseases caused by prions (normal proteins within the body). These prions change (mutate) to cause CJD.
Multiple forms of CJD exists and no cure exists. Sporadic CJD (sCJD) tends to effect individuals over the age of 60 with no known cause for the infection.
Genetic CJD (gCJD) has a dominant pattern where if one parent has the disease each child would have a 50% chance of inheriting the gene. Multiple genetic mutations are known to increase individuals’ risk for gCJD. Individuals with this form of the disease tend to be younger, 40-60 years old, at the age of onset.
Acquired forms of CJD cause < 1% of US cases. Iatrogenic CJD (iCJD) are associated with medical treatments. Variant CJD (vCJD) come from beef infected with the “mad cow” prion disease, bovine spongiform encephalopathy (BSE or mad cow disease). Individuals with this form of the disease are the youngest to become infected.
Approximately 1 person per million people may be affected by CJD. Approximately 320 new cases are diagnosed in the United States. Most cases (85%) occurring for no know reason. A majority (10-15%) of the remaining cases appear to genetic causes. Rarely, about 1%, CJD cases are related to individuals eating beef with bovine spongiform encephalopathy (BSE or mad cow disease) or via medical procedures.
Causes
See above.
Diagnosis
Examination by a doctor, often a neurologist, and possibly a psychologist or psychiatrist. Neurologists specialize in disorders of the nerves and brain. Psychologists and psychiatrists evaluate individuals’ mental health. (Psychiatrists are medical doctors who can prescribe medications. Psychologists cannot prescribe medications but are more likely to provide individual or group counseling.
Blood tests-A needle is poked into a person’s vein and blood is collect in tubes to be tested in a lab. Such tests can rule out other causes, like infection. Genetic testing is also done this way.
Lumbar puncture-A needle is poked into a person’s back to draw out some of the fluid that surrounds the brain and spinal cord. This fluid is called cerebral spinal fluid (CSF). Doctors will send the fluid they collect to the lab to find out if there is another cause for the symptoms, like infection, or if there are abnormal proteins indicative of CJD in the CSF.
Electroencephalogram (EEG)-Small stickers are placed on the client’s head and allow doctors to watch brain wave patterns looking for specific changes noted with CJD. This test may also be used to rule out seizure-like behavior of some clients.
Magnetic Resonance Imaging (MRI)-The client is placed into a scanner like the one pictured on the left. This device uses a magnet to takes pictures so that the doctor can see through the skull to see the brain.
Computed Tomography (CT)-Similar to an MRI, the CT scanner lets doctors and other healthcare providers look at the brain. The machine can take multiple X-rays in a short period of time and creates multiple pictures, slices, of the brain to see the brain structure in more detail than an MRI.
Signs & Symptoms
Brain-Dementia, anxiety and or depression can be seen in in persons with CJD as their brain deteriorates. Family may also note that the person’s personality changes. With certain types of CJD plaques are seen on MRI or CT scans. These plaques are a buildup of materials in the brain that do not let the electrical signals flow through the brain correctly. Difficult sleeping (insomnia) may also occur.
Eyes-Individuals with CJD may initial present at the eye doctor complaining of blurry vision or vision loss from one side of their eyes (hemianopia).
Muscles-Jerky, repeated muscle movements may be called myoclonus or extrapyramidal side effects (EPS) by your doctor. Difficulty with balance (ataxia) could lead to frequent falls and injuries from the falls.
Mouth-Individuals with CKD may have difficulty speaking or may even quit speaking all together as the facial muscles have less ability to move. This also affects these individuals’ ability to eat.
Treatment
Treatment is considered supportive as there is no cure for CJD. A variety of psychiatric medications may be used to control symptoms of anxiety, depression, personality changes, and at times even muscle jerks. Some individuals with CJD or their family members may choose to have a feeding tube placed to reduce the risk of choking or pneumonia for individuals who have difficulty swallowing.
Individuals with CJD or their families may choose to participate in hospice programs either in their home or a nursing facility to help control symptoms of CJD at the end of life. Families of individuals with CJD also need emotional support during this time.
Resources and References
https://cjdfoundation.org/about-cjd
https://www.cdc.gov/prions/cjd/index.html
https://www.karger.com/Article/FullText/503274#f01
https://www.nhs.uk/conditions/creutzfeldt-jakob-disease-cjd/treatment/
Scleroderma
Sclero-hardening Derma-relating to the skin
Disease
Scleroderma is an autoimmune (the body attacking itself) group of diseases from the body making to much collagen (scar tissue). This hardens or tightens the skin and or connective tissues in the human body.
Affects women (80%) more than men (20%). Starts between 30-50 years old. Approximately, 100, 000- 300, 000 cases exist in the United States. No cure exists.
Causes
genetics, exposure to virus or bacteria infections, silica, and certain medications, and abnormal immune system
Diagnosis
Scleroderma is diagnosed by symptoms and ruling out other causes. This can be a long and frustrating process, estimated to be about 3 years.
Rhuematologists are specialized doctors that are often involved in the diagnosis and treatment of scleroderma. They or other doctors caring for you may order blood work, computer tomography (CT) and Xrays to rule out other diseases. Ultrasound and magnetic resolution imagery (MRI) may be used to look at tissue deep within your body.
Signs and Symptoms
skin The skin becomes hardened and tight. It may look shiny. Movement may become difficult because of the tight, hard skin.
Raynaud’s Phenomenon Small blood vessels in hands and feet contract (become smaller) in cold temperatures or because of emotional distress. Toes and fingers may feel cold to touch, become numb, painful and even have a blue color. Raynaud’s phenomenon may happen when a person does not have scleroderma.
digestive symptoms Symptoms vary based on which tissues are affected but can include: difficulty swallowing, heart burn, cramping, bloating, constipation, and difficulty absorbing nutrients.
heart Scarring on the heart can create irregular and deadly heart rhythms. High blood pressure (hypertension) . Swelling in legs and shortness of breath are common in congestive heart failure (CHF).
lungs Scaring on the lungs can cause difficulty breathing and dangerously low oxygen levels in the body. This may be called pulmonary hypertension by your doctor.
kidneys Scarring in these organs can lead to high blood pressure and difficulty eliminating toxins in the form of urine.
mouth Tightening of skin on the face can lead to difficulty brushing teeth or having them cleaned professionally. Decreased amounts of saliva (spit) are produced. This increases the risk of cavities.
sex organs Men may experience difficulty getting or maintaining an erection (getting hard). Women are more likely to decreased vaginal lubrication and narrowing of the vaginal opening.
Treatment
Treatment of scleroderma is based on symptoms a person is having.
sildenafil (Viagra), tadalafil (Cialis) These medications are know to help men get and maintain erections. They are also used to treat the symptoms of Raynaud’s Phenomenon and pulmonary hypertension.
omeprazole (Prilosec) Proton-pump inhibitors such as Prilosec help reduce heart burn symptoms.
enalapril (Vasotec), lisinopril (Zesteril) ACE inhibitors such as these medications may be used to control high blood pressure, congestive heart failure, and damage to the kidneys.
Immune suppressants and immune globulin are medications being used to treat muscle pain and weakness
Resources and References:
https://www.mayoclinic.org/diseases-conditions/scleroderma/symptoms-causes/syc-20351952
https://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Scleroderma