Alpha-ketoglutarate dehydrogenase deficiency
May. 19, 2023
At vero eos et accusamus et iusto odio dignissimos ducimus qui blanditiis praesentium voluptatum deleniti atque corrupti quos dolores et quas.
Hypotonia is a term that describes decreased muscle tone. Typically, muscles have a very small amount of contraction that gives them a springy feel even when relaxed. This also provides some resistance to passive movement. It is not the same as muscle weakness, although the two conditions can happen at the same time.
Muscle tone is controlled by signals that travel from the brain to the nerves and tell the muscles to contract. Hypotonia can result from damage to the brain, spinal cord, nerves, or muscles. Hypotonia does not affect intellect. The opposite of hypotonia is hypertonia.
The damage can be the result of the following; however, it may not be possible to find the cause:
Hypotonia can be seen in:
Infants with hypotonia may have a floppy quality or “rag doll” appearance because their arms and legs hang by their sides, and they have little or no head control. Other symptoms include:
Treatment begins with a thorough diagnostic evaluation. This is usually performed by a neurologist and includes an assessment of:
Once a diagnosis has been made, the underlying condition is treated first. This is followed by treatment to improve symptoms and provide support, and may include physical, occupational, and speech-language therapies. Therapy for infants and young children may also include sensory stimulation programs.
Hypotonia can be a life-long condition. In some cases, muscle tone improves over time.
How can I or my loved one help improve care for people with hypotonia?
Consider participating in a clinical trial so clinicians and scientists can learn more about hypotonia and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
Where can I find more information about hypotonia?
The following organizations and resources may provide more information:
Content source: https://www.ninds.nih.gov/health-information/disorders/hypotonia Accessed June 23, 2023.
The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.
Upungufu wa alpha-ketoglutarate dehydrogenase "19 ""Vero eos et accusamus et iusto odio dignissimus ducimus qui blanditi praesentium voluptatum delenti atque corrupti quos dolores et quas"" (Kwa kweli, hatuna haki ya kutuhukumu na kutuhukumu, lakini hatuna haki ya kutuhukumu na kutuhukumu)." Hypotonia ni neno linalomaanisha kupungua kwa nguvu za misuli. Kwa kawaida, misuli huwa na kiasi kidogo sana cha kukandamiza ambacho huwapa hisia ya kuwa na mhimili hata wanapopumzika. Hii pia hutoa baadhi ya upinzani kwa harakati passive. Si sawa na udhaifu wa misuli, ingawa hali hizo mbili zaweza kutokea wakati uleule. Mwili wa mwili huongozwa na ishara kutoka kwenye ubongo hadi kwenye mishipa ya neva na kuagiza misuli ya mwili ifanye kazi. Hypotonia yaweza kutokea kwa sababu ya uharibifu wa ubongo, uti wa mgongo, neva, au misuli. Hypotonia haathiri akili. Kinyume cha hypotonia ni hypertonia. Uharibifu unaweza kuwa matokeo ya yafuatayo; hata hivyo, inaweza kuwa haiwezekani kupata sababu: Hypotonia inaweza kuonekana katika: Watoto wenye hypotonia wanaweza kuwa na ubora wa floppy au sura ya doll ya rag kwa sababu mikono na miguu yao inasimama kando yao, na wana udhibiti mdogo au hakuna kichwa. Dalili nyingine zinatia ndani: Matibabu huanza kwa kuchunguzwa kwa uangalifu. Ugonjwa huu hufanywa na daktari wa neva na unajumuisha tathmini ya: Mara tu utambuzi umefanywa, hali ya msingi hutibiwa kwanza. Hilo hufuatwa na matibabu ya kuboresha dalili na kutoa utegemezo, na yaweza kutia ndani matibabu ya kimwili, ya kazi, na ya usemi. Matibabu kwa ajili ya watoto wachanga na watoto wadogo yaweza pia kutia ndani programu za kuchochea hisi. Hypotonia yaweza kuwa hali ya maisha yote. Katika visa fulani, nguvu za misuli huboreshwa baada ya muda. Ninawezaje kusaidia kuboresha utunzaji wa watu wenye ugonjwa wa hypotonia? Fikiria kushiriki katika jaribio la kliniki ili madaktari na wanasayansi waweze kujifunza zaidi kuhusu hypotonia na magonjwa yanayohusiana nayo. Utafiti wa kliniki hutumia watu kujitolea kusaidia watafiti kujifunza zaidi kuhusu ugonjwa na labda kupata njia bora za kugundua, kutibu, au kuzuia ugonjwa kwa usalama. "Tunawahitaji watu wa kila aina, wenye afya au wanaoweza kuwa na ugonjwa, wa umri, jinsia, jamii na makabila mbalimbali ili kuhakikisha matokeo ya utafiti yanatumika kwa watu wengi iwezekanavyo na kwamba matibabu yatakuwa salama na yenye ufanisi kwa kila mtu atakayeitumia.""" Ninaweza kupata wapi habari zaidi kuhusu hypotonia? "Kama ilivyoelezwa hapo juu, ""Mafunzo ya afya"" ni ""Mafunzo ya afya"" na ""Mafunzo ya afya"" ni ""Mafunzo ya afya"" na ""Mafunzo ya afya"" ni ""Mafunzo ya afya"" na ""Mafunzo ya afya"" ni ""Mafunzo ya afya"" na ""Mafunzo ya afya"" ni ""Mafunzo ya afya"" na ""Mafunzo ya afya.""" Habari katika hati hii ni kwa ajili ya madhumuni ya elimu ya jumla tu. Haikusudiwi kuchukua nafasi ya ushauri wa kitaaluma wa kibinafsi. Ingawa habari hiyo ilitokana na vyanzo vinavyoaminika kuwa vya kuaminika, MedLink, wawakilishi wake, na watoa habari hawawezi kuhakikisha usahihi wake na kukataa kuwajibika kwa matokeo mabaya yanayotokana na matumizi yake. Kwa habari zaidi, wasiliana na daktari na shirika linalotajwa hapa.