Hoffmann syndrome
| Hoffmann syndrome |
|---|
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. It is caused by low thyroid hormones (T3 and T4) with elevated TSH.[2][3][4][5]
Signs and symptoms
[edit]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]
Cause
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Diagnosis
[edit]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
[edit]Diseases known to have a pseudoathletic appearance of the calves (hypertrophy or pseudohypertrophy), including exercise intolerance and/or muscle weakness:
- Kocher–Debré–Semelaigne syndrome (childhood-onset hypothyroid myopathy),
- Glycogen storage disease (GSD-V, & late-onset GSD-II),[10][11]
- Non-dystrophic myotonias and pseudomyotonias (such as Myotonia congenita and Brody disease),[12]
- Limb-girdle muscular dystrophy,[13]
- Duchenne and Becker muscular dystrophy
- Focal myositis,
- Sarcoid granulomas, and
- Amyloid deposits in muscles[3]
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]
Management
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References
[edit]- ^ "Myopathies associated with thyroid disease". MedLink Neurology. Retrieved 2023-05-28.
- ^ a b 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.
- ^ a b c d 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.
- ^ a b Udayakumar, N; Rameshkumar, AC; Srinivasan, AV (October 2005). "Hoffmann syndrome: presentation in hypothyroidism". Journal of Postgraduate Medicine. 51 (4): 332–3. PMID 16388183.
- ^ a b 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.
- ^ a b 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.
- ^ a b c 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.
- ^ a b Fariduddin, Maria M.; Bansal, Nidhi (2023), "Hypothyroid Myopathy", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 30137798, retrieved 2023-05-28
- ^ a b 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.