Presentation
Orthostatic hypotension without compensatory tachycardia is always present, as well as episodic hypertension in response to emotional stress or visceral pain. Chronic renal failure is common. [orpha.net]
Presentations such as left ventricular hypertrophy or even dilated cardiomyopathy have been described in patients with lipodystrophy. [scielo.br]
At present, treatment alleviates pain and can control some associated symptoms, but the process is generally progressive. As a complication, there is an increased risk of injury to the feet because of loss of sensation (see diabetic foot). [en.wikipedia.org]
Entire Body System
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Weakness
Symptoms depend on the site of nerve damage and can include motor changes such as weakness; sensory symptoms such as numbness, tingling, or pain; or autonomic changes such as urinary symptoms. [en.wikipedia.org]
Respiratoric
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Aspiration
Initial symptoms (from birth to 3 years) include swallowing problems, aspiration pneumonia, hypotonia, temperature and blood pressure instability, and delayed development. [orpha.net]
Gastrointestinal
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Nausea
Gastrointestinal manifestations include gastroparesis, nausea, bloating, and diarrhea. Because many diabetics take oral medication for their diabetes, absorption of these medicines is greatly affected by the delayed gastric emptying. [en.wikipedia.org]
Urogenital
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Incontinence
Urinary symptoms include urinary frequency, urgency, incontinence and retention. Again, because of the retention of urine, urinary tract infections are frequent. [en.wikipedia.org]
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Sexual Dysfunction
dysfunction caused by neuropathy. [en.wikipedia.org]
Neurologic
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Dysesthesia
It is usually described as a glove-stocking distribution of numbness, sensory loss, dysesthesia and night time pain. The pain can feel like burning, pricking sensation, achy or dull. A pins and needles sensation is common. [en.wikipedia.org]
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Cranial Neuropathy
Cranial neuropathy[edit] When cranial nerves are affected, neuropathies of the oculomotor nerve (cranial nerve #3 or CNIII) are most common. [en.wikipedia.org]
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Burning Sensation
Certain physiotherapy techniques can help alleviate symptoms brought on from diabetic neuropathy such as deep pain in the feet and legs, tingling or burning sensation in extremities, muscle cramps, muscle weakness, sexual dysfunction, and diabetic foot [en.wikipedia.org]
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Tingling
Symptoms depend on the site of nerve damage and can include motor changes such as weakness; sensory symptoms such as numbness, tingling, or pain; or autonomic changes such as urinary symptoms. [en.wikipedia.org]
Workup
Rhythm
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Sinus Arrhythmia
This symptom is usually accompanied by a loss of respiratory sinus arrhythmia – the usual change in heart rate seen with normal breathing. These two findings suggest autonomic neuropathy. [en.wikipedia.org]
Treatment
This is the primary treatment of diabetic neuropathy that may change the course of the condition as the other treatments focus on reducing pain and other symptoms. [en.wikipedia.org]
Management and treatment Management should be tailored for each patient, as the clinical expression varies considerably. [orpha.net]
Prognosis
Prognosis Average age of death is in the third decade of life but patients may live into the seventh decade. The documents contained in this web site are presented for information purposes only. [orpha.net]
Other[edit] Low-quality evidence supports a moderate-large beneficial effect of botulinum toxin injections.[11] There is insufficient evidence to draw firm conclusions for the utility of the cannabinoids nabilone and nabiximols.[11] Prognosis[edit] The [en.wikipedia.org]
Etiology
Etiology The disease is due to a founder mutation in the ELP1 gene (9q31), encoding elongator-1 protein, resulting in a truncated unstable protein. [orpha.net]
Lipodystrophy is a rare disease characterized by the loss of adipose tissue, which may be generalized or partial.1 Its etiology may be congenital or acquired and there is a deficiency in the leptin hormone production, making the carriers of this pathology [scielo.br]
Epidemiology
Summary Epidemiology The disease affects individuals of Ashkenazi Jewish ancestry. The prevalence at birth in the Ashkenazi Jewish population is estimated at 1/10,000 in North America and 1/3,700 in Israel. [orpha.net]
Small infections can progress to ulceration and this may require amputation.[25] Epidemiology[edit] Globally diabetic neuropathy affects approximately 132 million people as of 2010 (1.9% of the population).[26] Diabetes is the leading known cause of neuropathy [en.wikipedia.org]
Pathophysiology
Five genes may be involved in the pathophysiology of this type of lipodystrophy, all leading to subcutaneous fat loss in the extremities. [scielo.br]
Prevention
Enhanced glucose control prevents the development of clinical neuropathy and reduces nerve abnormalities in type 1 diabetes, and delays the onset of neuropathy in both types of diabetes. [en.wikipedia.org]