Medical history (history of illness) represents an important component in the diagnosis of Huntington’s disease. Family history Are there any hereditary diseases in your family? Are there any neurological diseases in your family? Social anamnesis Current medical history/systemic history (somatic and psychological complaints). Do you suffer from involuntary, uncoordinated movements, especially of the arms and … Huntington’s Disease: Medical History
Blood, hematopoietic organs-immune system (D50-D90). Antiphospholipid syndrome (APS; antiphospholipid antibody syndrome) – autoimmune disease; predominantly affects women (gynecotropia); characterized by the following triad: Venous and/or arterial thrombosis (blood clot (thrombus) in a blood vessel). Thrombocytopenia (lack of platelets (thrombocytes) in the blood). Recurrent spontaneous abortions (occurrence of three or more consecutive spontaneous abortions before the … Huntington’s Disease: Or something else? Differential Diagnosis
The following are the most important diseases or complications that may be co-morbid due to Huntington’s disease: Respiratory system (J00-J99) Aspiration pneumonia (pneumonia caused by inhalation of foreign material (often stomach contents)). Pneumonia (pneumonia) Respiratory insufficiency (respiratory failure; disturbance of external (mechanical) respiration). Blood, hematopoietic organs – immune system (D50-D90). Thrombosis (vascular disease in which … Huntington’s Disease: Complications
A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body weight, height; further: Inspection (viewing). Skin, mucous membranes Eyes: sclerae (white part of the eye); atypical eye movement? Rigidity (muscle rigidity)? Auscultation (listening) of the heart [due todifferential diagnoses: ischemic or hemorrhagic infarcts]. Examination … Huntington’s Disease: Examination
1st order laboratory parameters – obligatory laboratory tests. Molecular genetic testing – analysis of the frequency of base triplet repeats (three consecutive nucleobases of a nucleic acid) cytosine, adenine, and guanine in the gene HTT by PCR (polymerase chain reaction). CSF diagnostics (examination of the nerve water). Small blood count Differential blood count Inflammatory parameters … Huntington’s Disease: Test and Diagnosis
Therapeutic target Relief of symptoms Therapy recommendations Symptomatic therapy: amantadine (Antiviralia); antiepileptics: Levetiracetam, valproate; neuroleptics: Aripiprazole, haloperidol, olanzapine, sulpiride, tetrabenazine, tiapride. Complementary measures Coenzyme Q10 – reduced neurodegeneration by 15% in one study. Creatine – slows the onset of Huntington’s disease. See under “Other therapy.” Further notes In a first-in-human clinical trial (Phase I study), … Huntington’s Disease: Drug Therapy
Obligatory medical device diagnostics. Computed tomography of the skull (cranial CT, cranial CT or cCT). Magnetic resonance imaging of the skull (cranial MRI, cranial MRI or cMRI). Positron emission tomography (PET; procedure of nuclear medicine, which allows the creation of cross-sectional images of living organisms by visualizing the distribution patterns of weak radioactive substances) – … Huntington’s Disease: Diagnostic Tests
The following symptoms and complaints may indicate Huntington’s disease: Early symptoms (nonspecific complaints). Anxiety disorders Choreatic hyperkineses (St. Vitus’ dance; involuntary, arrhythmic, rapid contractions of muscles) of the arms and legs Insomnia (sleep disorders) Concentration weaknesses Coordination disorders Personality changes Mental disorders Late symptoms Dementia Depression Dysarthria (speech disorder) Rigidity (rigidity) of the muscles Warning … Huntington’s Disease: Symptoms, Complaints, Signs
Pathogenesis (disease development) Huntington’s disease is inherited in an autosomal dominant manner. Only 5-10% carry a spontaneous mutation as a cause. The disease is caused by an increased repetition of the base triplet (three consecutive nucleobases of a nucleic acid) CAG within the gene HTT. This results in the production of an abnormal Huntington’s protein … Huntington’s Disease: Causes
General measures Review of permanent medication due topossible effect on existing disease MAO inhibitors due tointeraction with tetrabenazine. Medical aids Wheelchairs, armchairs as well as beds specially adapted for Huntington’s disease. Regular checkups Regular medical checkups Nutritional medicine Nutritional counseling based on nutritional analysis Nutritional recommendations according to a mixed diet taking into account the … Huntington’s Disease: Therapy
