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Delayed ability to stand

MedGen UID:
1370611
Concept ID:
C4476709
Finding
HPO: HP:0025335

Definition

A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Delayed ability to stand

Conditions with this feature

Gillespie syndrome
MedGen UID:
96563
Concept ID:
C0431401
Disease or Syndrome
Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).
Spinocerebellar ataxia type 29
MedGen UID:
350085
Concept ID:
C1861732
Disease or Syndrome
Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Spastic paraplegia, intellectual disability, nystagmus, and obesity
MedGen UID:
924883
Concept ID:
C4284592
Disease or Syndrome
Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).
Neuropathy, congenital hypomyelinating, 2
MedGen UID:
1648446
Concept ID:
C4722277
Disease or Syndrome
Congenital hypomyelinating neuropathy-2 is an autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons. The severity is variable: some patients may present at birth with contractures and respiratory insufficiency, whereas others may achieve walking (summary by Warner et al., 1996). CHN shows significant phenotypic overlap with Dejerine-Sottas syndrome (DSS; 145900), which is also a neuropathy with early onset. Some classify the disorders differently, noting that CHN is characterized by hypo- or amyelination resulting from a congenital defect in myelin formation, whereas DSS has features of continuous myelin breakdown, with demyelination and remyelination (summary by Smit et al., 2008). For a discussion of genetic heterogeneity of CHN, see CHN1 (605253).
Episodic ataxia, type 9
MedGen UID:
1714171
Concept ID:
C5394520
Disease or Syndrome
Episodic ataxia type 9 (EA9) is a neurologic disorder characterized by onset of ataxic episodes in the first years of life. Features may include difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The ataxic episodes vary in frequency and duration; most tend to occur every few weeks or months and last minutes to hours. Prior to the EA, most patients have neonatal- or infantile-onset tonic or generalized tonic-clonic (GTC) seizures that may be severe and refractory to medication, but remit later in infancy or early childhood, either spontaneously or concurrently with medication. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development. However, others show normal psychomotor development. Treatment of the ataxic episodes with acetazolamide is effective in about 50% of patients (summary by Schwarz et al., 2019). For a phenotypic description and discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120).
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
MedGen UID:
1755743
Concept ID:
C5436552
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development (MDDGB15) is characterized by elevated serum creatine kinase, developmental delay, epilepsy, impaired intellectual development, and brain abnormalities (Fu et al., 2019). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
Mitochondrial complex 2 deficiency, nuclear type 4
MedGen UID:
1782861
Concept ID:
C5543176
Disease or Syndrome
Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting.
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
MedGen UID:
1786662
Concept ID:
C5543228
Disease or Syndrome
Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by Rasheed et al., 2021).
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
MedGen UID:
1794208
Concept ID:
C5561998
Disease or Syndrome
SIMHA syndrome is characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies. Inter- and intrafamilial phenotypic variability has been observed (Kambouris et al., 2014; Zahra et al., 2020).

Professional guidelines

PubMed

Tehami N, Kaushal K, Maher B
Best Pract Res Clin Gastroenterol 2024 Mar;69:101914. Epub 2024 Apr 17 doi: 10.1016/j.bpg.2024.101914. PMID: 38749584
Warnock C
Nurs Stand 2016 Apr 27;30(35):51-60. doi: 10.7748/ns.30.35.51.s48. PMID: 27191320
Dongmei H, Jing L, Mei X, Ling Z, Hongmin Y, Zhidong W, Li D, Zikuan G, Hengxiang W
Cytotherapy 2011 Sep;13(8):913-7. Epub 2011 May 5 doi: 10.3109/14653249.2011.579958. PMID: 21545234

Recent clinical studies

Etiology

Hoare RL, Veys P, Klein N, Callard R, Standing JF
Clin Pharmacol Ther 2017 Aug;102(2):349-357. Epub 2017 May 26 doi: 10.1002/cpt.621. PMID: 28074473Free PMC Article
Malak R, Kostiukow A, Krawczyk-Wasielewska A, Mojs E, Samborski W
Med Sci Monit 2015 Jul 1;21:1904-10. doi: 10.12659/MSM.893377. PMID: 26132100Free PMC Article
Levy O, Levy O
Trans R Soc Trop Med Hyg 2015 Jan;109(1):3-4. doi: 10.1093/trstmh/tru185. PMID: 25573103Free PMC Article
Glisic S, Ehlenbach S, Jailwala P, Waukau J, Jana S, Ghosh S
Cell Tissue Res 2010 Mar;339(3):585-95. Epub 2010 Feb 9 doi: 10.1007/s00441-009-0900-0. PMID: 20143240
Lassau-Wray ER, Parker AW
Eur J Appl Physiol Occup Physiol 1993;67(5):476-80. doi: 10.1007/BF00376466. PMID: 8299621

Diagnosis

Tehrany PM, Rahmanian P, Rezaee A, Ranjbarpazuki G, Sohrabi Fard F, Asadollah Salmanpour Y, Zandieh MA, Ranjbarpazuki A, Asghari S, Javani N, Nabavi N, Aref AR, Hashemi M, Rashidi M, Taheriazam A, Motahari A, Hushmandi K
Environ Res 2023 Dec 1;238(Pt 1):117087. Epub 2023 Sep 15 doi: 10.1016/j.envres.2023.117087. PMID: 37716390
Julián-Jiménez A, Morales-Casado MI
Neurologia (Engl Ed) 2019 Mar;34(2):105-113. Epub 2016 Jul 26 doi: 10.1016/j.nrl.2016.05.009. PMID: 27469578
Flaumenhaft Y, Ben-Assuli O
Health Policy 2018 Aug;122(8):815-826. Epub 2018 May 14 doi: 10.1016/j.healthpol.2018.05.002. PMID: 29884294
Hoare RL, Veys P, Klein N, Callard R, Standing JF
Clin Pharmacol Ther 2017 Aug;102(2):349-357. Epub 2017 May 26 doi: 10.1002/cpt.621. PMID: 28074473Free PMC Article
Echenne B, Rivier F, Jellali AJ, Azais M, Mornet D, Pons F
Neuromuscul Disord 1997 May;7(3):187-90. doi: 10.1016/s0960-8966(97)00452-5. PMID: 9185183

Therapy

Hoare RL, Veys P, Klein N, Callard R, Standing JF
Clin Pharmacol Ther 2017 Aug;102(2):349-357. Epub 2017 May 26 doi: 10.1002/cpt.621. PMID: 28074473Free PMC Article
Levy O, Levy O
Trans R Soc Trop Med Hyg 2015 Jan;109(1):3-4. doi: 10.1093/trstmh/tru185. PMID: 25573103Free PMC Article
Veal C, Auyong DB, Hanson NA, Allen CJ, Strodtbeck W
Acta Anaesthesiol Scand 2014 Mar;58(3):362-4. Epub 2013 Dec 26 doi: 10.1111/aas.12244. PMID: 24372058
Reichel G
J Neurol 2001 Apr;248 Suppl 1:25-7. doi: 10.1007/pl00007814. PMID: 11357235
Pepe PE, Eckstein M
Emerg Med Clin North Am 1998 Feb;16(1):1-15. doi: 10.1016/s0733-8627(05)70345-x. PMID: 9496311

Prognosis

Meléndez JC, Satorres E, Pitarque A, Escudero J, Delhom I, Navarro-Prados AB
J Alzheimers Dis 2023;96(4):1685-1693. doi: 10.3233/JAD-230826. PMID: 38007663
Julián-Jiménez A, Morales-Casado MI
Neurologia (Engl Ed) 2019 Mar;34(2):105-113. Epub 2016 Jul 26 doi: 10.1016/j.nrl.2016.05.009. PMID: 27469578
Hoare RL, Veys P, Klein N, Callard R, Standing JF
Clin Pharmacol Ther 2017 Aug;102(2):349-357. Epub 2017 May 26 doi: 10.1002/cpt.621. PMID: 28074473Free PMC Article
Cicerone MT, Pikal MJ, Qian KK
Adv Drug Deliv Rev 2015 Oct 1;93:14-24. Epub 2015 May 14 doi: 10.1016/j.addr.2015.05.006. PMID: 25982818Free PMC Article
Abdallah E, Waked E, Al-Helal B, Asad R, Nabil M, Harba T
Saudi J Kidney Dis Transpl 2013 Nov;24(6):1111-24. doi: 10.4103/1319-2442.121267. PMID: 24231472

Clinical prediction guides

Julián-Jiménez A, Morales-Casado MI
Neurologia (Engl Ed) 2019 Mar;34(2):105-113. Epub 2016 Jul 26 doi: 10.1016/j.nrl.2016.05.009. PMID: 27469578
Hoare RL, Veys P, Klein N, Callard R, Standing JF
Clin Pharmacol Ther 2017 Aug;102(2):349-357. Epub 2017 May 26 doi: 10.1002/cpt.621. PMID: 28074473Free PMC Article
Malak R, Kostiukow A, Krawczyk-Wasielewska A, Mojs E, Samborski W
Med Sci Monit 2015 Jul 1;21:1904-10. doi: 10.12659/MSM.893377. PMID: 26132100Free PMC Article
Cicerone MT, Pikal MJ, Qian KK
Adv Drug Deliv Rev 2015 Oct 1;93:14-24. Epub 2015 May 14 doi: 10.1016/j.addr.2015.05.006. PMID: 25982818Free PMC Article
Reichel G
J Neurol 2001 Apr;248 Suppl 1:25-7. doi: 10.1007/pl00007814. PMID: 11357235

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