Our case showed predominantly myopathy with minimal systemic manifestations of hypothyroidism. Arq Neuropsiquiatr 2003;61:851-4. Research Journal of Radiology. Since delayed return ofthe ankle-jerks occurs Absolute calf enlargement is a frequent finding in patients with neuromuscular diseases. Udaya kumar N, Ramesh kumar AC, Srinivasan AV: Hoffmann syndrome: Presentation in hypothyroidism. Hoffmann's syndrome is very rare condition and its initial presentation with myopathic manifestations can raise diagnostic problems as calf muscle hypertrophy can present in other diseases as well, like Duchenne and Becker's muscular dystrophy, amyloidosis, and focal myositis. Chopra BK, Singh G, Puri A. Hoffman's syndrome (hypothyroid myopathy). The differential diagnosis of muscle hypertrophy includes myotonia congenita, hypothyroidism, amyloidosis, Isaacs syndrome, some forms of limb girdle muscular dystrophies, myotubular myopathy, dystroph-inopathies such as Becker's dystrophy, stiff-person syndrome, amyloidosis, Schwartz-Jampel syndrome, and parasite infestations. Calf muscle pain is often caused by overuse or a sports injury. We found an absolute calf hypertrophy in more than every fifth patient, 80% being true and 20% pseudohypertrophies. Reviews in Endocrine and Metabolic Disorders. The boy was found to have hypothyroidism [TSH= 807 ,8 /ml (0 .5 ± 4 .8 ), free T 4 = 5 .15 pmol /l (11 -18 ,6 )]. K.A.S. Along with features of hypothyroidism the main additional feature is muscle hypertrophy.It can happen in any muscle of the limbs, but commonly affects the proximal muscles giving the typical Hercules appearance. J Postgrad Med 2005;51:332-3. PraveenDepartment of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry IndiaSource of Support: None, Conflict of Interest: NoneCheckDOI: 10.4103/2231-0738.84215 function RightsLinkPopUp () { var url = "https://s100.copyright.com/AppDispatchServlet"; var location = url + "?publisherName=" + encodeURI ('Medknow') + "&publication=" + encodeURI ('IJNP') + "&title=" + encodeURI ('HoffMann\'s syndrome: A rare neurological presentation of hypothyroidism') + "&publicationDate=" + encodeURI ('Jul 1 2011 12:00AM') + "&author=" + encodeURI ('Praveen K, Aslam S, Dutta T K') + "&contentID=" + encodeURI ('IntJNutrPharmacolNeurolDis_2011_1_2_201_84215') + "&orderBeanReset=true" 1 Department of Neurology, Guntur Medical College, Guntur, Andhra Pradesh, India2 Department of General Medicine, Guntur Medical College, Guntur, Andhra Pradesh, India, Correspondence Address:A SridharFF-5 PG Hostel, Government General Hospital, Guntur - 522 001, Andhra Pradesh IndiaSource of Support: None, Conflict of Interest: NoneCheckDOI: 10.4103/2277-8632.117190 function RightsLinkPopUp () { var url = "https://s100.copyright.com/AppDispatchServlet"; var location = url + "?publisherName=" + encodeURI ('Medknow') + "&publication=" + encodeURI ('JNTR') + "&title=" + encodeURI ('Rare yet treatable: Hypothyroid myopathy (Hoffman\'s syndrome)') + "&publicationDate=" + encodeURI ('Jul 1 2013 12:00AM') + "&author=" + encodeURI ('Sundarachari N V, Sridhar A, Lakshmi VP') + "&contentID=" + encodeURI ('JNTRUnivHealthSci_2013_2_3_203_117190') + "&orderBeanReset=true" Rudrajit P, Sinha PK, Mondal P, Banerjee AK. Achilles tendon 0005109 Calf muscle hypertrophy Increased size of calf muscles 0008981 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Pelvic [rarediseases.info.nih.gov] Overgrowth ( hypertrophy ) of the calf muscles occurs in some … However, they are not uncommon in the countries where such routine screening programmes are not available, the diagnosis of … Hoffmann syndrome: Presentation in hypothyroidism. Aust N Z J Med 1988;18:799-806. Rarely, hypothyroidism can cause more severe muscle symptoms. Praveen, Sarfaraz Aslam, TK Dutta Udayakumar N, Rameshkumar AC, Srinivasan AV. Muscle hypertrophy is an extremely rare finding in hypothyroid patients. Hypothyroidism. Muscle Nerve 2002;26:141-4. Thyroid hormone deficiency is a rare cause of acquired myopathy, comprising only 5% of the total cases. He was diagnosed to have proximal muscle weakness and pseudohypertrophy of calf muscles due to primary hypothyroidism. Straining of the soleus muscle is commonly a chronic injury that occurs in long-distance runners. Computed tomograms of the legs revealed no evidence of tumor. Keywords: Hashimoto′s thyroiditis; Hoffmann′s syndrome; pseudo hypertrophy of muscles; thyroid peroxidase antibodies. Laboratory investigation in hypothyroid myopathy generally shows increased levels of muscle enzyme. Inclusion body myositis. The muscle hypertrophy and muscle weakness receded following hormone replacement therapy with thyroid hormones. Hypothyroidism presenting as muscle stiffness and muscle pseudo hypertrophy in adults is known as Hoffmann's syndrome. PopUp = window.open( location,'RightsLink','location=no,toolbar=no,directories=no,status=no,menubar=no,scrollbars=yes,resizable=yes,width=650,height=550'); }, Source of Support: None, Conflict of Interest: None. Calf hypertrophy is a typical clinical feature in neuromuscular diseases such as X-linked muscular dystrophies of Duchenne and Becker type and can be seen as an atypical feature in numerous other diseases. Cysticercosis Trichinosis; Schistosomiasis Drug treatment. 2  Rhabdomyolysis (when muscle breaks down rapidly) is another rare muscular manifestation of hypothyroidism. Early diagnosis and treatment reverse clinical features in Hoffmann's syndrome due to hypothyroid myopathy: A case report. Treatment. 2016; Journal of Evolution of Medical and Dental Sciences. When a patient develops hypothyroidism, it means the number of Thyroid hormones in their body has become too low. Hypothyroid myopathy with a strikingly elevated serum creatine kinase levels. J Assoc Physicians India 2010;58:569-70. One example is Hoffman's syndrome, in which a person develops diffuse muscle hypertrophy (enlarged muscles) leading to significant muscle stiffness, weakness, and pain. We present a case of Hoffman's disease with predominant proximal myopathy and myotonia. Muscle hypertrophy as first presentation of hypothyroidism is quite rare. On the basis of results of calf muscle biopsies, it seems likely that the enlargement was due to muscle fiber hypertrophy and atrophy combined with an increase in connective tissue. Kocher-Debre-Semelaigne (KDS) syndrome is a rare form of hypothyroid myopathy, with associated hypertrophy of muscles. Madhu SV, Jain R, Kant S, Prakash V, Kumar V. Myopathy presenting as a sole manifestation of hypothyroidism. Rarely patient with hypothyroidism may develop muscular pseudohypertrophy a condition called Hoffmann’s syndrome in adults. Figure 4: Resolution of calf muscle hypertrophy after 6 months of treatment 2. Myopathy of hypothyroidism. muscle hypertrophy with enlargement of the calf muscles . HS is a very rare form of hypothyroid myopathy in adults that causes proximal weakness and muscle hypertrophy. Therefore special awareness about this syndrome will lead to the correct diagnosis. Ann Rheum Dis 1968;27:590-6. Hypothyroidism and Muscle Weakness. Keywords: Hoffman′s disease, hypothyroid myopathy, myotonia, https://www.jdrntruhs.org/text.asp?2013/2/3/203/117190. Calf hypertrophy develops in a wide range of myopathic conditions; clinical acumen, electrophysiology and possibly muscle biopsy remain important to avoid a potentially fruitless genetic quest. 2014; 7(1): 2, © International Journal of Nutrition, Pharmacology, Neurological Diseases | Published by Wolters Kluwer -. Although cardiac manifestations of hypothyroidism are well known, reports of cardiac involvement in KDS have only described the occurrence of pericardial effusion as an association. J Indian Med Assoc 2004;102:41–2. This report describes an adolescent male presenting with typical features of this rare … very rare, muscular hypertrophy occurring in infants with cretinism. Kocher-Debre-Semelaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and long-standing moderate-to-severe hypothyroidism in the pediatric age group. Hypothyroidism presenting as muscle stiffness and muscle pseudo hypertrophy in adults is known as Hoffmann's syndrome. This hypertrophy is reversible with treatment. The diagnosis of calf hypertrophy usually is based on subjective visual assessment. J Assoc Physicians India 1972;20:387-90. PopUp = window.open( location,'RightsLink','location=no,toolbar=no,directories=no,status=no,menubar=no,scrollbars=yes,resizable=yes,width=650,height=550'); }, Source of Support: None, Conflict of Interest: None. Mastaglia FL, Ojeda VJ, Sarnat HB, Kakulas BA. Duyff RF, Van den Bosch J, Laman DM, van Loon BJ, Linssen WH. The thyroid gland. Such presentation can … Qureshi W, Hassan G, Khan GQ, Kadri SM, Kak M, Ahmad M. Deepak S, Harikrishnan, Jayakumar B. Hypothyroidism presenting as Hoffman's syndrome. To stay rooted in the theoretical and practical bases on which the upcoming recommendations are made, before proceeding, please be sure you've read the introductory a… Thyroid dysgenesis was the most common etiology (80.9%), (2) Calf muscles involvement is a rare clinical presentation of hypothyroidism… Infections. The following are some helpful tips for your calf training. Treatment of peripheral neuropathy due to hypothyroidism is directed at managing the underlying hypothyroidism and treating the resulting symptoms. JK Science 2011;13:190-2. Vasconcellos LF, Peixoto MC, de Oliveira TN, Penque G, Leite AC. The electrophysiological study may reveal features suggestive of myopathy, neuropathy or mixed pattern. 2016; 4(1): 1. This type of injury often occurs during athletic activities that require abrupt pushing off from the foot, such as during racket sports or soccer. The presentation of hypothyroidism may be with polymyositis-like syndrome, serum TSH levels should be routinely tested in all patients wit… J Neurol Neurosurg Psychiatr 2000;68:750-5. It's diagnosis is also difficult. He had hypertrophy of calf muscles and the thyroid profile showed low levels of T3, T4 and markedly elevated level of thyroid-stimulating hormone thus confirming the presence of hypothyroidism. Deepak S, Harikrishnan, Jayakumar B. Hypothyroidism presenting as Hoffman’s syndrome. He had hoarseness of voice, a dry texture of skin, a macroglossia and an odematous face. In Williams textbook of endocrinology, 11. although never in any type of rhythmic sequence that could qualify as dancing Calf hypertrophy can be feigned by atrophy of the quadriceps muscles, then referred to as relative calf hypertrophy. Neu­ romuscular findings in thyroid dysfunction: a prospective clinical and In both children andadults, the hypertrophy is reversible on return to the euthyroid state. NV Sundarachari1, A Sridhar2, Vijaya P Lakshmi2 Even though the muscle appears enlarged, it is weak and so the affliction is pseudo hypertrophy especially of the calf muscles. The boy was found to have hypothyroidism [TSH=807 μIU/ml (0.5–4.8), free … 2014; 3(18): 4772, International Archives of Medicine. Neuromuscular findings in thyroid dysfunction: A prospective clinical and electrodiagnostic study. 3. β 2 adrenergic agonists: Albuterol; Clenbuterol Androgenic steroids Storage & replacement Scott KR, Simmons Z, Boyer PJ. Hypothyroidism presenting as muscle stiffness and muscle pseudo hypertrophy in adults is known as Hoffmann's syndrome. Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India, Correspondence Address:K.A.S. hypothyroidism and calf muscle hypertrophy make it very easy to pick it up. HoffMann's syndrome: A rare neurological presentation of hypothyroidism Hoffmann syndrome is a rare form of hypothyroid myopathy in adults characterized by presence of muscle weakness, stiffness and pseudohypertrophy. Other injuries might also cause swelling, such as a calf muscle strain, or tear. Sidibe EH, Diop AN, Thiam A, Diagne PM, Sarr A, Toure M, Reed Larsen P, Henry MK, Shlomo Melmed, Kenneth SP. Calf muscle hypertrophy accompanies a wide variety of diseases like Duchenne and Becker muscle dystrophy, infiltration by sarcoid granulomas, amyloid deposits and focal myositis. Neurogenic disorders can cause muscle hypertrophy and particularly autosomal recessive spinal muscular atrophy; several clinical clues can help to distinguish these from myopathic disorders. 'Myxoedematous pseudo-myotonia' refers to significant muscular weakness associated with delayed muscle contraction as well as relaxa-tion. Hoffman syndrome as first manifestation of hypothyroidism: A rare case. He showed muscle hypertrophy with enlargement of the calf muscles. , Chopra et al., noticed hypertrophy of almost all muscles of body, especially calf and arm muscles. Calf pseudohypertrophy is typical. He had hoarsenessof voice, a dry texture of skin, a macroglossia andan odematous face (Pic. 1 ). The symptoms and also the serum levels of enzymes return to normal with hormone replacement therapy. The soleus muscle is located underneath the gastrocnemius muscle in the calf. It may also cause muscle weakness or loss of muscle control. Muscle hypertrophy is an extremely rare finding in hypothyroid patients. Myalgia without muscular hypertrophy. Duyff RF, Van den Bosch J, Laman DM, van Loon BJ, Linssen WH. Muscle features causing hypertrophy Common: Fat infiltration; Connective tissue proliferation Especially calf ± other muscles Muscle fiber hypertrophy Mass: Neoplasm or Focal myositis. There are a few cases reported in India. The presentation of an adolescent female with limb-girdle pattern of weakness and calf hypertrophy had initially led to the consideration of other myopathies including limb … B rain imaging findings showed pituitary enlargement. The neurological manifestations of hypothyroidism are very unusual to see as initial symptoms and they usually occur late in the course of disease. J Postgrad Med 2005;51:332-3. Rare yet treatable: Hypothyroid myopathy (Hoffman's syndrome) Deepak S, Harikrishnan, Jayakumar B. Hypothyroidism presenting as Hoffman's syndrome. Laboratory investigation in hypothyroid myopathy generally shows increased levels of muscle enzyme. 2016; 4(1): 1, © Journal of Dr. NTR University of Health Sciences | Published by Wolters Kluwer -. After 1 month therapy her hypothyroid symptoms reduced, pseudohypertrophy of the calf muscles regressed, muscle enzymes were reduced. https://www.ijnpnd.com/text.asp?2011/1/2/201/84215. Fessel WJ. (1) Pseudo hypertrophy of muscles comprised 18.7% of cases with a 2:1 female to male ratio, and it was found in various forms of hypothyroidism. Hashimoto's thyroiditis; Hoffmann's syndrome; pseudo hypertrophy of muscles; thyroid peroxidase antibodies. However, it can also indicate an underlying medical issue, including deep vein … Ozdag MF, Eroglu E, Ulas UH, Ipekdal I, Odabasý Z, Vural O. Calf muscle hypertrophy in Pompe's disease is a seldom quoted sign, the exact incidence being unknown. Laboratory investigation in hypothyroid myopathy generally shows increased levels of muscle enzyme. Myopathies associated with hypothyroidism: A review based upon 13 cases. Different foot positioning during calf training to induce portion-specific gastrocnemius muscle hypertrophy. The condition is rare in countries with screening programmes for hypothyroidism at birth. The recommendations here should be food for thought or places to start, not dogmatic scriptures to follow to the letter. Case report. Hoffman's syndrome: Pseudohypertrophic myopathy as initial manifestation of hypothyroidism. Research Journal of Radiology. This combination of hypothyroidism and hypertrophy of muscles is classically described as Kocher–Debré–Semelaigne syndrome. Acta Neurol Belg 2005;105:212-3. The muscle involvement in hypothyroidism is caused by changes in muscle fibres from fast twitching type II to slow twitching type-I fibres. Hypothyroid myopathy or Hoffman's syndrome is a rare manifestation of a common condition. Abstract. Results: Brain imaging findings showed pituitary enlargement. Muscle hypertrophy is an extremely rare finding in hypothyroid patients. Muscular hypertrophy is present, but … We report a case of hypothyroidism with calf muscle hypertrophy and proximal myopathy as the initial symptoms. See your doctor if you know or suspect you have hypothyroidism and you're having troubling or painful symptoms in your limbs. 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The correct diagnosis a condition called Hoffmann ’ S syndrome in adults that causes proximal weakness muscle! Tomograms of the legs revealed no evidence of tumor hypothyroidism presenting as Hoffman ’ S in! Suddenly at the top of the calf, Banerjee AK replacement therapy on return to normal with hormone therapy.

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