Hoffmann syndrome

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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).

Contents

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. It is caused by low thyroid hormones (T3 and T4) with elevated TSH. [2] [3] [4] [5]

Signs and symptoms

Signs and symptoms include exercise intolerance, muscle fatigue, muscle cramps, myalgia, delayed muscle relaxation (pseudomyotonia), proximal muscle weakness, delayed deep tendon reflexes (hyporeflexia) especially of the ankles, and a pseudoathletic appearance of hypertrophic calf muscles. There may also be bradycardia, mild anemia, dry skin, hoarse voice, and cold intolerance. EMG may be normal, neuropathic, myopathic, or mixed type. Serum CK may be normal or raised. The sign of myoedema (raised muscle tissue in response to percussive tactile stimulus) may be observed. Treatment is thyroid hormone replacement therapy and prognosis is generally good. Hypertrophic calves typically return to normal after approximately 3 months of treatment. [2] [3] [4] [5] [6]

Diagnosis

Muscle biopsy of hypothyroid myopathy shows atrophy of type II (fast-twitch/glycolytic) muscle fibres and a predominance of type I (slow-twitch/oxidative) muscle fibres; as well as abnormally high glycogen accumulation. [7] [8] [9] The reason for the muscle hypertrophy in Hoffmann syndrome is not clearly established; it may be due to altered carbohydrate metabolism, mucoid deposits, or glycosaminoglycan deposits. [3] [7] In an individual diagnosed with Hoffmann syndrome whose hypertrophy did not improve after thyroid hormone replacement therapy, muscle biopsy showed hypertrophy of muscle fibres with increased nuclei, few necrotic fibres and mucoid deposits in places. [6]

Differential diagnoses

Diseases known to have a pseudoathletic appearance of the calves (hypertrophy or pseudohypertrophy), including exercise intolerance and/or muscle weakness:

Thyroid metabolism can be disrupted secondary to a primary disease. A common comorbidity of the metabolic myopathy McArdle disease (Glycogen storage disease type V) is hypothyroidism. [14] [15] It is also a comorbidity of late-onset Pompe disease (Glycogen storage disease type II). [16] [17] As both hyper- and hypothyroidism disrupts muscle glycogen metabolism, it is important to keep in mind differential diagnoses and their comorbidities when trying to determine whether signs and symptoms are either primary or secondary disease. [7] [8] [9] [18] [19]

Related Research Articles

Kocher–Debré–Semelaigne syndrome(KDSS) is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy (Herculean appearance), myxoedema, short stature, and cognitive impairment.

<span class="mw-page-title-main">Glycogen storage disease type V</span> Human disease caused by deficiency of a muscle enzyme

Glycogen storage disease type V, also known as McArdle's disease, is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type I.

<span class="mw-page-title-main">Glycogen storage disease</span> Medical condition

A glycogen storage disease is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.

Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation of the skeletal muscles after voluntary contraction or electrical stimulation, and the muscle shows an abnormal EMG.

<span class="mw-page-title-main">Glycogen storage disease type II</span> Medical condition

Glycogen storage disease type II, also called Pompe disease, and formerly known as GSD-IIa. It is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. GSD-II and Danon disease are the only glycogen storage diseases with a defect in lysosomal metabolism, and Pompe disease was the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe.

In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. Myopathy means muscle disease. This meaning implies that the primary defect is within the muscle, as opposed to the nerves or elsewhere. Muscle cramps, stiffness, and spasm can also be associated with myopathy.

<span class="mw-page-title-main">Exercise intolerance</span> Medical condition

Exercise intolerance is a condition of inability or decreased ability to perform physical exercise at the normally expected level or duration for people of that age, size, sex, and muscle mass. It also includes experiences of unusually severe post-exercise pain, fatigue, nausea, vomiting or other negative effects. Exercise intolerance is not a disease or syndrome in and of itself, but can result from various disorders.

<span class="mw-page-title-main">Hitting the wall</span> Sudden fatigue during endurance sports

In endurance sports such as road cycling and long-distance running, hitting the wall or the bonk is a condition of sudden fatigue and loss of energy which is caused by the depletion of glycogen stores in the liver and muscles. Milder instances can be remedied by brief rest and the ingestion of food or drinks containing carbohydrates. Otherwise, it can remedied by attaining second wind by either resting for approximately 10 minutes or by slowing down considerably and increasing speed slowly over a period of 10 minutes. Ten minutes is approximately the time that it takes for free fatty acids to sufficiently produce ATP in response to increased demand.

<span class="mw-page-title-main">Contracture</span> Permanent shortening of a muscle or joint

In pathology, a contracture is a shortening of muscles, tendons, skin, and nearby soft tissues that causes the joints to shorten and become very stiff, preventing normal movement. A contracture is usually permanent, but less commonly can be temporary, or resolve over time but reoccur later in life.

<span class="mw-page-title-main">Muscle hypertrophy</span> Enlargement or overgrowth of a muscle organ

Muscle hypertrophy or muscle building involves a hypertrophy or increase in size of skeletal muscle through a growth in size of its component cells. Two factors contribute to hypertrophy: sarcoplasmic hypertrophy, which focuses more on increased muscle glycogen storage; and myofibrillar hypertrophy, which focuses more on increased myofibril size. It is the primary focus of bodybuilding-related activities.

<span class="mw-page-title-main">Endocrine disease</span> Medical condition

Endocrine diseases are disorders of the endocrine system. The branch of medicine associated with endocrine disorders is known as endocrinology.

<span class="mw-page-title-main">Myophosphorylase</span> Muscle enzyme involved in glycogen breakdown

Myophosphorylase or glycogen phosphorylase, muscle associated (PYGM) is the muscle isoform of the enzyme glycogen phosphorylase and is encoded by the PYGM gene. This enzyme helps break down glycogen into glucose-1-phosphate, so it can be used within the muscle cell. Mutations in this gene are associated with McArdle disease, a glycogen storage disease of muscle.

Second wind is a phenomenon in endurance sports, such as marathons or road running, whereby an athlete who is out of breath and too tired to continue, finds the strength to press on at top performance with less exertion. The feeling may be similar to that of a "runner's high", the most obvious difference being that the runner's high occurs after the race is over. In muscle glycogenoses, an inborn error of carbohydrate metabolism impairs either the formation or utilization of muscle glycogen. As such, those with muscle glycogenoses do not need to do prolonged exercise to experience "hitting the wall". Instead, signs of exercise intolerance, such as an inappropriate rapid heart rate response to exercise, are experienced from the beginning of an activity, and some muscle GSDs can achieve second wind within about 10 minutes from the beginning of the aerobic activity, such as walking. (See below in pathology).

<span class="mw-page-title-main">Inborn errors of carbohydrate metabolism</span> Medical condition

Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of carbohydrates.

<span class="mw-page-title-main">Thyroid hormones</span> Hormones produced by the thyroid gland

Thyroid hormones are any hormones produced and released by the thyroid gland, namely triiodothyronine (T3) and thyroxine (T4). They are tyrosine-based hormones that are primarily responsible for regulation of metabolism. T3 and T4 are partially composed of iodine, derived from food. A deficiency of iodine leads to decreased production of T3 and T4, enlarges the thyroid tissue and will cause the disease known as simple goitre.

Danon disease is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. It is inherited in an X-linked dominant pattern.

Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily affect muscle. They are generally genetic defects that interfere with muscle's ability to create energy, causing a low ATP reservoir within the muscle cell.

<span class="mw-page-title-main">Neutral lipid storage disease</span> Congenital autosomal recessive disorder

Neutral lipid storage disease is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I) which is also known as Chanarin–Dorfman syndrome), which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is typically non-bullous congenital ichthyosiform erythroderma which appears as white scaling.

<span class="mw-page-title-main">Pseudoathletic appearance</span> Medical sign

Pseudoathletic appearance is a medical sign meaning to have the false appearance of a well-trained athlete due to pathology instead of true athleticism. It is also referred to as a Herculean or bodybuilder-like appearance. The pathology may result in muscle inflammation (swelling), muscle hyperplasia, muscle hypertrophy, muscle pseudohypertrophy, or symmetrical subcutaneous deposits of fat or other tissue.

References

  1. ↑ "Myopathies associated with thyroid disease". MedLink Neurology. Retrieved 2023-05-28.
  2. 1 2 Vignesh, G; Balachandran, K; Kamalanathan, S; Hamide, A (March 2013). "Myoedema: A clinical pointer to hypothyroid myopathy". Indian Journal of Endocrinology and Metabolism. 17 (2): 352. doi: 10.4103/2230-8210.109672 . PMC   3683223 . PMID   23776921.
  3. 1 2 3 4 Mangaraj, S; Sethy, G (October 2014). "Hoffman's syndrome - A rare facet of hypothyroid myopathy". Journal of Neurosciences in Rural Practice. 5 (4): 447–8. doi: 10.4103/0976-3147.140025 . PMC   4173264 . PMID   25288869.
  4. 1 2 Udayakumar, N; Rameshkumar, AC; Srinivasan, AV (October 2005). "Hoffmann syndrome: presentation in hypothyroidism". Journal of Postgraduate Medicine. 51 (4): 332–3. PMID   16388183.
  5. 1 2 Vasconcellos, LF; Peixoto, MC; de Oliveira, TN; Penque, G; Leite, AC (September 2003). "Hoffman's syndrome: pseudohypertrophic myopathy as initial manifestation of hypothyroidism. Case report". Arquivos de Neuro-psiquiatria. 61 (3B): 851–4. doi: 10.1590/s0004-282x2003000500027 . PMID   14595495.
  6. 1 2 Qureshi, Waseem; Hassan, Ghulam; Khan, Ghulam Qadir; Kadri, Syed Manzoor; Kak, Manish; Ahmad, Manzoor; Tak, Shahid; Kundal, Darshan Lal; Hussain, Showkat; Rather, Abdul Rashid; Masoodi, Ibrahim; Sikander, Sabia (2005-07-20). "Hoffmann's syndrome: a case report". GMS German Medical Science. 3: Doc05. ISSN   1612-3174. PMC   2703243 . PMID   19675722.
  7. 1 2 3 Rodolico, Carmelo; Bonanno, Carmen; Pugliese, Alessia; Nicocia, Giulia; Benvenga, Salvatore; Toscano, Antonio (2020-09-01). "Endocrine myopathies: clinical and histopathological features of the major forms". Acta Myologica. 39 (3): 130–135. doi:10.36185/2532-1900-017. ISSN   1128-2460. PMC   7711326 . PMID   33305169.
  8. 1 2 Fariduddin, Maria M.; Bansal, Nidhi (2023), "Hypothyroid Myopathy", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID   30137798 , retrieved 2023-05-28
  9. 1 2 Dimitriadis, G D; Leighton, B; Parry-Billings, M; West, D; Newsholme, E A (1989-01-15). "Effects of hypothyroidism on the sensitivity of glycolysis and glycogen synthesis to insulin in the soleus muscle of the rat". Biochemical Journal. 257 (2): 369–373. doi:10.1042/bj2570369. ISSN   0264-6021. PMC   1135589 . PMID   2649073.
  10. ↑ Rodríguez-Gómez, I.; Santalla, A.; Díez-Bermejo, J.; Munguía-Izquierdo, D.; Alegre, L. M.; Nogales-Gadea, G.; Arenas, J.; Martín, M. A.; Lucía, A.; Ara, I. (November 2018). "Non-osteogenic muscle hypertrophy in children with McArdle disease". Journal of Inherited Metabolic Disease. 41 (6): 1037–1042. doi:10.1007/s10545-018-0170-7. hdl: 10578/19657 . ISSN   1573-2665. PMID   29594644. S2CID   4394513.
  11. ↑ Menon, M. Suraj; Roopch, P. Sreedharan; Kabeer, K. Abdulkhayar; Shaji, C. Velayudhan (July 2016). "Calf Muscle Hypertrophy in Late Onset Pompe's Disease". Archives of Medicine and Health Sciences. 4 (2): 251. doi: 10.4103/2321-4848.196188 . ISSN   2321-4848. S2CID   58424073 – via ResearchGate.
  12. ↑ Stunnenberg, Bas C.; LoRusso, Samantha; Arnold, W. David; Barohn, Richard J.; Cannon, Stephen C.; Fontaine, Bertrand; Griggs, Robert C.; Hanna, Michael G.; Matthews, Emma; Meola, Giovanni; Sansone, Valeria A.; Trivedi, Jaya R.; van Engelen, Baziel G.M.; Vicart, Savine; Statland, Jeffrey M. (October 2020). "Guidelines on clinical presentation and management of nondystrophic myotonias". Muscle & Nerve. 62 (4): 430–444. doi:10.1002/mus.26887. ISSN   0148-639X. PMC   8117169 . PMID   32270509.
  13. ↑ de Visser, Marianne (2020-12-01). "Late-onset myopathies: clinical features and diagnosis". Acta Myologica. 39 (4): 235–244. doi:10.36185/2532-1900-027. ISSN   1128-2460. PMC   7783434 . PMID   33458579.
  14. ↑ Scalco, Renata S.; Lucia, Alejandro; Santalla, Alfredo; Martinuzzi, Andrea; Vavla, Marinela; Reni, Gianluigi; Toscano, Antonio; Musumeci, Olimpia; Voermans, Nicol C.; Kouwenberg, Carlyn V.; Laforêt, Pascal; San-Millán, Beatriz; Vieitez, Irene; Siciliano, Gabriele; Kühnle, Enrico (2020-11-24). "Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)". Orphanet Journal of Rare Diseases. 15 (1): 330. doi: 10.1186/s13023-020-01562-x . ISSN   1750-1172. PMC   7687836 . PMID   33234167.
  15. ↑ Lucia, Alejandro; Martinuzzi, Andrea; Nogales-Gadea, Gisela; Quinlivan, Ros; Reason, Stacey; International Association for Muscle Glycogen Storage Disease study group (December 2021). "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group". Neuromuscular Disorders. 31 (12): 1296–1310. doi: 10.1016/j.nmd.2021.10.006 . ISSN   1873-2364. PMID   34848128. S2CID   240123241.
  16. ↑ Schneider, Joseph; Burmeister, Lynn A.; Rudser, Kyle; Whitley, Chester B.; Jarnes Utz, Jeanine (September 2016). "Hypothyroidism in late-onset Pompe disease". Molecular Genetics and Metabolism Reports. 8: 24–27. doi:10.1016/j.ymgmr.2016.06.002. ISSN   2214-4269. PMC   4932620 . PMID   27408821.
  17. ↑ Fatehi, Farzad; Ashrafi, Mahmoud Reza; Babaee, Marzieh; Ansari, Behnaz; Beiraghi Toosi, Mehran; Boostani, Reza; Eshraghi, Peyman; Fakharian, Atefeh; Hadipour, Zahra; Haghi Ashtiani, Bahram; Moravej, Hossein; Nilipour, Yalda; Sarraf, Payam; Sayadpour Zanjani, Keyhan; Nafissi, Shahriar (2021). "Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus". Frontiers in Neurology. 12: 739931. doi: 10.3389/fneur.2021.739931 . ISSN   1664-2295. PMC   8490649 . PMID   34621239.
  18. ↑ Celsing, F.; Blomstrand, E.; Melichna, J.; Terrados, N.; Clausen, N.; Lins, P. E.; Jansson, E. (April 1986). "Effect of hyperthyroidism on fibre-type composition, fibre area, glycogen content and enzyme activity in human skeletal muscle". Clinical Physiology (Oxford, England). 6 (2): 171–181. doi:10.1111/j.1475-097x.1986.tb00066.x. ISSN   0144-5979. PMID   2937605 – via Wiley.
  19. ↑ Brenta, Gabriela (2011). "Why can insulin resistance be a natural consequence of thyroid dysfunction?". Journal of Thyroid Research. 2011: 152850. doi: 10.4061/2011/152850 . ISSN   2042-0072. PMC   3175696 . PMID   21941681.
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