Diagnosis of Huntington's Disease is based on history, physical examination and investigation. From the history and physical examination found a family history of suffering from the same thing, usually occurs at the age of degenerative and psychiatric disorders and there is progressive cognitive decline. Found chorea movements are spontaneous movements that occur suddenly and redundant with the time and place of occurrence is erratic predilection.
In the CT - Scan examination found atrophy of the cerebral cortex, caudate nucleus and putamen, as well as flattening the lateral ventricle. In addition, gene correction can also be performed especially in patients who have a history of suffering from the same disease in the family as well as to get rid of the disease - a disease gene defects that possess the same clinical manifestations.
If the patient has shown real manifestations, further investigation is not required. Difficulties in diagnosis mainly lies in the lack of family history, however, shows a progressive chorea, emotional disorders, and dementia. But it can be overcome by genetic testing. Presence of CAG repeats more than 39 times at a locus huntington huntington definitive diagnosis of this disease.
Differential Diagnosis
Differential diagnosis for Huntington's disease are: Parkinson's disease, Multiple Sclerosis, Wilson Disease, Syndenham Chorea, tardive dyskinesia, Alzheimer's disease and several neurodegenerative diseases that can be compared to Huntington, for example like polymyoclonus, acanthocytosis with progressive chorea, or dentatorubropallidoluysian degeneration that can only be removed with genetic testing
Parkinson's disease is a disorder of the basal ganglia and is one of the most common neurological disorder that affects 1 % of all individuals over the age of 60 years. There are two main findings of the neuropathology of the disease: loss of pigmented dopaminergic neurons in the substantia nigra and the presence of Lewy bodies. Most of the cases of idiopathic Parkinson's is caused by genetic and environmental factors.
Patients with Parkinson's onset shows two manifestations: early onset of clinical manifestations and onset of motor signs. Early symptoms of long duration ( weeks to months ), with a tremor as the most frequent symptom. There are four cardinal signs of Parkinson's: tremor at rest, rigidity, bradykinesia, and postural instability.
Multiple Sclerosis is an inflammatory disease that is mediated by the immune system attacks the axons are covered with myelin in the central nervous system and damage myelin and axons with varying degrees of severity. The disease is characterized by episodes of reversible neurologic deficits. In most patients , these episodes gradually followed by a progressive decline in neurologic function. The cause of the disease is unknown, but may be related to genetic and nongenetic factors, such as viruses, vitamin D deficiency, or environmental factors all of which result in an autoimmune disorder that causes the immune attack on the central nervous system are recurrent.
Neuroacanthocytosis the heterogeneous group of disorders characterized by neurological symptoms and acanthocytosis, ie abnormalities in red blood cells. Neurologic abnormalities usually a movement or ataxia disorders, personality disorders, cognitive disorders, axonal neuropathy, and resurrection. Along the way, most patients have manifestations of akantositosis on peripheral blood smear ( 10-30 %) of erythrocytes shaped like a star or a horn .
Differential diagnosis for Huntington's disease are: Parkinson's disease, Multiple Sclerosis, Wilson Disease, Syndenham Chorea, tardive dyskinesia, Alzheimer's disease and several neurodegenerative diseases that can be compared to Huntington, for example like polymyoclonus, acanthocytosis with progressive chorea, or dentatorubropallidoluysian degeneration that can only be removed with genetic testing
Parkinson's disease is a disorder of the basal ganglia and is one of the most common neurological disorder that affects 1 % of all individuals over the age of 60 years. There are two main findings of the neuropathology of the disease: loss of pigmented dopaminergic neurons in the substantia nigra and the presence of Lewy bodies. Most of the cases of idiopathic Parkinson's is caused by genetic and environmental factors.
Patients with Parkinson's onset shows two manifestations: early onset of clinical manifestations and onset of motor signs. Early symptoms of long duration ( weeks to months ), with a tremor as the most frequent symptom. There are four cardinal signs of Parkinson's: tremor at rest, rigidity, bradykinesia, and postural instability.
Multiple Sclerosis is an inflammatory disease that is mediated by the immune system attacks the axons are covered with myelin in the central nervous system and damage myelin and axons with varying degrees of severity. The disease is characterized by episodes of reversible neurologic deficits. In most patients , these episodes gradually followed by a progressive decline in neurologic function. The cause of the disease is unknown, but may be related to genetic and nongenetic factors, such as viruses, vitamin D deficiency, or environmental factors all of which result in an autoimmune disorder that causes the immune attack on the central nervous system are recurrent.
Neuroacanthocytosis the heterogeneous group of disorders characterized by neurological symptoms and acanthocytosis, ie abnormalities in red blood cells. Neurologic abnormalities usually a movement or ataxia disorders, personality disorders, cognitive disorders, axonal neuropathy, and resurrection. Along the way, most patients have manifestations of akantositosis on peripheral blood smear ( 10-30 %) of erythrocytes shaped like a star or a horn .
When Chorea appeared in old age, can cause a wide range of possibilities, for example, senile chorea which can be caused by infection, hyperglycemia, stroke, and thyrotoxicosis. However senile chorea generally disappear within a few weeks. To ensure that the diagnosis of chorea appeared in old age, can do a complete history and adjustment with Huntington's Disease symptoms, or by examination of the Huntington gene .
When Chorea appeared at a young age , generally compared with syndenham chorea, or lupus with antiphospholipid antibodies, or use cocaine, but all three do not have a familial relationship is real and not a decline in the level of intelligence. "Inherited Benign Chorea" which can be derived in an autosomal is one of the differential diagnosis, but generally Benign Chorea Inherited manifests before age 5 years, progressiveness is slow, and there is no mental disorder.
Additionally huntington disease can also be compared with wilson disease and tardive dyskinesia. Wilson disease can be ruled out by examination of serum copper and ceruloplasmin in the blood, while for tardive dyskinesia can be removed with a complete diagnose patients, especially regarding the recent treatment of patients.
Differential Diagnosis between Huntington's Disease and Alzheimer Disease
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| Different Huntington's Disease with Alzheimer's Disease |
