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Physical symptoms of TM may include muscle weakness, the breakdown of muscle tissue, fatigue, and heat intolerance. [2] Physical acts such as lifting objects and climbing stairs may become increasingly difficult. [3] If untreated, TM can be an extremely debilitating disorder that can, in extreme rare cases, lead to death.
Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis [1] from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or excitement and physical activity of any kind.
Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with mitochondrial inheritance that causes a variety of signs and symptoms chiefly affecting the nervous system [1] Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with ...
[7] sIBM is a rare disease, with a prevalence ranging from 1 to 71 individuals per million. [8] [9] Weakness comes on slowly (over months to years) in an asymmetric manner and progresses steadily, leading to severe weakness and wasting of arm and leg muscles. IBM is more common in men than women. [10]
Addison's disease, also known as primary adrenal insufficiency, [4] is a rare long-term endocrine disorder characterized by inadequate production of the steroid hormones cortisol and aldosterone by the two outer layers of the cells of the adrenal glands (adrenal cortex), causing adrenal insufficiency.
Any disease that impacts 200,000 people or less in the U.S. is classified as a rare disease. The rare disease community is a close-knit group of patients, parents and specialists determined to ...
Fields condition, [1] also known as Fields' disease, [2] [3] is a neuromuscular disease that is considered the rarest medical condition in the world. It was named after Welsh identical twins Catherine and Kirstie Fields, who are two of only three people known to have been affected.
Sengers syndrome is a rare autosomal recessive mitochondrial disease characterised by congenital cataract, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. [3] Biallelic pathogenic mutations in the AGK gene, which encodes the acylglycerol kinase enzyme, cause Sengers syndrome. [2]
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