very rare, muscular hypertrophy occurring in infants with cretinism. β 2 adrenergic agonists: Albuterol; Clenbuterol Androgenic steroids Storage & replacement Hoffmann syndrome is a rare form of hypothyroid myopathy in adults characterized by presence of muscle weakness, stiffness and pseudohypertrophy. Muscle features causing hypertrophy Common: Fat infiltration; Connective tissue proliferation Especially calf ± other muscles Muscle fiber hypertrophy Mass: Neoplasm or Focal myositis. 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" Duyff RF, Van den Bosch J, Laman DM, van Loon BJ, Linssen WH. Therefore special awareness about this syndrome will lead to the correct diagnosis. 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. Neuromuscular findings in thyroid dysfunction: A prospective clinical and electrodiagnostic study. Chopra BK, Singh G, Puri A. Hoffman's syndrome (hypothyroid myopathy). Even though the muscle appears enlarged, it is weak and so the affliction is pseudo hypertrophy especially of the calf muscles. 2016; Journal of Evolution of Medical and Dental Sciences. 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. Hoffman's syndrome: Pseudohypertrophic myopathy as initial manifestation of hypothyroidism. We found an absolute calf hypertrophy in more than every fifth patient, 80% being true and 20% pseudohypertrophies. K.A.S. Deepak S, Harikrishnan, Jayakumar B. Hypothyroidism presenting as Hoffman’s syndrome. Other injuries might also cause swelling, such as a calf muscle strain, or tear. 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… muscle hypertrophy with enlargement of the calf muscles . J Postgrad Med 2005;51:332-3. https://www.ijnpnd.com/text.asp?2011/1/2/201/84215. This hypertrophy is reversible with treatment. Sidibe EH, Diop AN, Thiam A, Diagne PM, Sarr A, Toure M, Reed Larsen P, Henry MK, Shlomo Melmed, Kenneth SP. Case report. The condition is rare in countries with screening programmes for hypothyroidism at birth. Hoffmann syndrome: Presentation in hypothyroidism. Hypothyroidism presenting as muscle stiffness and muscle pseudo hypertrophy in adults is known as Hoffmann's syndrome. J Indian Med Assoc 2004;102:41-2. Pain occurs suddenly at the time of the injury and a knot at the top of the calf might appear. 2  Rhabdomyolysis (when muscle breaks down rapidly) is another rare muscular manifestation of hypothyroidism. J Indian Med Assoc 2004;102:41-2. Keywords: Hoffman′s disease, hypothyroid myopathy, myotonia, https://www.jdrntruhs.org/text.asp?2013/2/3/203/117190. The diagnosis of calf hypertrophy usually is based on subjective visual assessment. Hypothyroidism presenting as muscle stiffness and muscle pseudo hypertrophy in adults is known as Hoffmann's syndrome. Calf muscle hypertrophy in Pompe's disease is a seldom quoted sign, the exact incidence being unknown. 2016; 4(1): 1. 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. HoffMann's syndrome: A rare neurological presentation of hypothyroidism Muscle Nerve 2002;26:141-4. Muscle hypertrophy as first presentation of hypothyroidism is quite rare. J Assoc Physicians India 1972;20:387-90. Acta Neurol Belg 2005;105:212-3. 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. The muscle involvement in hypothyroidism is caused by changes in muscle fibres from fast twitching type II to slow twitching type-I fibres. Research Journal of Radiology. This combination of hypothyroidism and hypertrophy of muscles is classically described as Kocher–Debré–Semelaigne syndrome. Thyroid dysgenesis was the most common etiology (80.9%), (2) Calf muscles involvement is a rare clinical presentation of hypothyroidism… Early diagnosis and treatment reverse clinical features in Hoffmann's syndrome due to hypothyroid myopathy: A case report. 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. 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 )]. Hypothyroidism presenting as muscle stiffness and muscle pseudo hypertrophy in adults is known as Hoffmann's syndrome. Hoffman syndrome as first manifestation of hypothyroidism: A rare case. The symptoms and also the serum levels of enzymes return to normal with hormone replacement therapy. We report a case of hypothyroidism with calf muscle hypertrophy and proximal myopathy as the initial symptoms. 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. We studied seven patients with S-1 radiculopathy who developed ipsilateral enlargement of the calf. Since delayed return ofthe ankle-jerks occurs The soleus muscle is located underneath the gastrocnemius muscle in the calf. In both children andadults, the hypertrophy is reversible on return to the euthyroid state. He had hoarseness of voice, a dry texture of skin, a macroglossia and an odematous face. 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. Figure 4: Resolution of calf muscle hypertrophy after 6 months of treatment 2. 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 … Results: Brain imaging findings showed pituitary enlargement. Our case showed predominantly myopathy with minimal systemic manifestations of hypothyroidism. The recommendations here should be food for thought or places to start, not dogmatic scriptures to follow to the letter. 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" Rare yet treatable: Hypothyroid myopathy (Hoffman's syndrome) Muscle hypertrophy is an extremely rare finding in hypothyroid patients. HS is a very rare form of hypothyroid myopathy in adults that causes proximal weakness and muscle hypertrophy. Kocher-Debre-Semelaigne (KDS) syndrome is a rare form of hypothyroid myopathy, with associated hypertrophy of muscles. It's diagnosis is also difficult. J Postgrad Med 2005;51:332-3. This type of injury often occurs during athletic activities that require abrupt pushing off from the foot, such as during racket sports or soccer. Infections. , Chopra et al., noticed hypertrophy of almost all muscles of body, especially calf and arm muscles. He had hoarsenessof voice, a dry texture of skin, a macroglossia andan odematous face (Pic. 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. 2014; 7(1): 2, © International Journal of Nutrition, Pharmacology, Neurological Diseases | Published by Wolters Kluwer -. Duyff RF, Van den Bosch J, Laman DM, van Loon BJ, Linssen WH. Computed tomograms of the legs revealed no evidence of tumor. Hypothyroid myopathy with a strikingly elevated serum creatine kinase levels. Laboratory investigation in hypothyroid myopathy generally shows increased levels of muscle enzyme. He was diagnosed to have proximal muscle weakness and pseudohypertrophy of calf muscles due to primary hypothyroidism. After 1 month therapy her hypothyroid symptoms reduced, pseudohypertrophy of the calf muscles regressed, muscle enzymes were reduced. We present a case of Hoffman's disease with predominant proximal myopathy and myotonia. The neurological manifestations of hypothyroidism are very unusual to see as initial symptoms and they usually occur late in the course of disease. Myalgia without muscular hypertrophy. Cysticercosis Trichinosis; Schistosomiasis Drug treatment. Muscle hypertrophy is an extremely rare finding in hypothyroid patients. Treatment. Rarely, hypothyroidism can cause more severe muscle symptoms. In Williams textbook of endocrinology, 11. The boy was found to have hypothyroidism [TSH=807 μIU/ml (0.5–4.8), free … Kocher-Debre-Semelaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and long-standing moderate-to-severe hypothyroidism in the pediatric age group. When a patient develops hypothyroidism, it means the number of Thyroid hormones in their body has become too low. Qureshi W, Hassan G, Khan GQ, Kadri SM, Kak M, Ahmad M. Deepak S, Harikrishnan, Jayakumar B. Hypothyroidism presenting as Hoffman's syndrome. This report describes an adolescent male presenting with typical features of this rare … Hypothyroidism and Muscle Weakness. J Indian Med Assoc 2004;102:41–2. Laboratory investigation in hypothyroid myopathy generally shows increased levels of muscle enzyme. However, they are not uncommon in the countries where such routine screening programmes are not available, the diagnosis of … Calf pseudohypertrophy is typical. Mastaglia FL, Ojeda VJ, Sarnat HB, Kakulas BA. 2014; 3(18): 4772, International Archives of Medicine. However, it can also indicate an underlying medical issue, including deep vein … Thyroid hormone deficiency is a rare cause of acquired myopathy, comprising only 5% of the total cases. Deepak S, Harikrishnan, Jayakumar B. Hypothyroidism presenting as Hoffman's syndrome. Inclusion body myositis. Ozdag MF, Eroglu E, Ulas UH, Ipekdal I, Odabasý Z, Vural O. Fessel WJ. Keywords: Hashimoto′s thyroiditis; Hoffmann′s syndrome; pseudo hypertrophy of muscles; thyroid peroxidase antibodies. JK Science 2011;13:190-2. 3. Myopathies associated with hypothyroidism: A review based upon 13 cases. 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. (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. 2016; 4(1): 1, © Journal of Dr. NTR University of Health Sciences | Published by Wolters Kluwer -. Research Journal of Radiology. Neurogenic disorders can cause muscle hypertrophy and particularly autosomal recessive spinal muscular atrophy; several clinical clues can help to distinguish these from myopathic disorders. 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 … Scott KR, Simmons Z, Boyer PJ. Hashimoto's thyroiditis; Hoffmann's syndrome; pseudo hypertrophy of muscles; thyroid peroxidase antibodies. 'Myxoedematous pseudo-myotonia' refers to significant muscular weakness associated with delayed muscle contraction as well as relaxa-tion. Madhu SV, Jain R, Kant S, Prakash V, Kumar V. Myopathy presenting as a sole manifestation of hypothyroidism. 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. Calf hypertrophy can be feigned by atrophy of the quadriceps muscles, then referred to as relative calf hypertrophy. Reviews in Endocrine and Metabolic Disorders. There are a few cases reported in India. The presentation of hypothyroidism may be with polymyositis-like syndrome, serum TSH levels should be routinely tested in all patients wit… The electrophysiological study may reveal features suggestive of myopathy, neuropathy or mixed pattern. 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