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Hoffmann syndrome is a rare form of hypothyroid myopathy and is not to be confused with Werdnig-Hoffmann disease (a type of spinal muscular atrophy). It was first documented in 1897 by Johann Hoffmann. [1] It has adult-onset symptoms and is comparable to the childhood-onset Kocher–Debré–Semelaigne syndrome.
Thyrotoxic symptoms are usually mild and in some individuals, the hypothyroid phase is the only symptomatic phase. [4] [5] [7] In the hypothyroid phase, patient may experience cold intolerance, fatigue, weight gain, or depression. The hypothyroidism may or may not resolve spontaneously. [5]
Hypothyroidism is more common in women than in men. [3] People over the age of 60 are more commonly affected. [3] Dogs are also known to develop hypothyroidism, as are cats and horses, albeit more rarely. [13] The word hypothyroidism is from Greek hypo-'reduced', thyreos 'shield', and eidos 'form', where the two latter parts refer to the ...
Symptoms can include: fatigue, weight gain, pale or puffy face, feeling cold, joint and muscle pain, constipation, dry and thinning hair, heavy menstrual flow or irregular periods, depression, a slowed heart rate, problems getting pregnant, miscarriages, [19] and myopathy.
Most frequent are symptoms due to conjunctival or corneal irritation: burning, photophobia, tearing, pain, and a gritty or sandy sensation. [4] Protruding eyeballs (known as proptosis and exophthalmos). Diplopia (double vision) is common. [4] Limitation of eye movement (due to impairment of eye muscle function).
The syndrome can present with variable symptoms, even between members of the same family harboring the same mutation. [1] Typically most or all tissues are resistant to thyroid hormone, so despite raised measures of serum thyroid hormone the individual may appear euthyroid (have no symptoms of over- or underactivity of the thyroid gland).