Proximal tubulopathy -- diabetes mellitus -- cerebellar ataxia: A very rare syndrome characterized mainly by diabetes, movement disorder and kidney abnormality. Death often occurs during childhood. More detailed information about the symptoms, causes, and treatments of Proximal tubulopathy -- diabetes mellitus -- cerebellar ataxia is available below.
See full list of 23 symptoms of Proximal tubulopathy -- diabetes mellitus -- cerebellar ataxia
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Cluster of diseases with difficult diagnosis issues: There is a well-known list of medical conditions that are all somewhat difficult to diagnose, and all can present in a variety of different severities. Diseases...read more »
Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to speak. This was initially misdiagnosed as a ...read more »
Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or Alzheimer's...read more »
Rare type of breast cancer without a lump: There is a less common form of breast cancer called inflammatory breast cancer. Its symptoms can be an inflammation of the breast tissue, such as with a ...read more »
Poorly healing leg rashes a classic sign of chronic disease: Recurring leg rashes, or poorly healing leg rashes, are a classic sign of undiagnosed diabetes, particularly of Type 2 diabetes,...read more »
Leg cramps at night a classic sign: The symptom of having leg muscle cramps, particularly at night, is a classic sign of undiagnosed diabetes. However, there are...read more »
Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder...read more »
MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked....read more »
Over-diagnosis of pulmonary hypertension in obese patients: A diagnosis of pulmonary hypertension, particularly pulmonary arterial hypertension, is often a...read more »
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Obesity-related conditions undiagnosed in children: A variety of conditions are associated with obesity (see obesity), but these tend to be undiagnosed more often in child...read more »
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Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Proximal tubulopathy -- diabetes mellitus -- cerebellar ataxia as a "rare disease".
Source - Orphanet
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