", keywords "Autosomal recessive, Disabled children, Hereditary, Oman, Spastic paraplegia", author "Roshan Koul and Al-Murshedi, {Fathiya M.} and Al-Azri, {Faisal M.} and Ranjit Mani and Abdelrahim, {Rana A.} and Vivek Koul and Alfutaisi, {Amna M. [squ.pure.elsevier.com]

LMPH1C is a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment. [abcam.com]

Some cases are seriously disabling while others are less disabling and are compatible with a productive and full life. [en.wikipedia.org]

Individuals with complicated HSP exhibit additional neurologic features such as intellectual disability, seizures, ataxia, peripheral neuropathy, deafness, cataracts, retinal degeneration, or muscle atrophy, depending on which gene is causative. [invitae.com]

LMPH1C is a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment. Belongs to the connexin family. [mybiosource.com]

She has always had a great interest in movement disorders with focus on movement disorder genetics and electrophysiology. She holds a Ph.D. degree in neurosciences from University College London. [books.google.com]

Movement Disord 2016; 31: S227-S. [hih-tuebingen.de]

Movement Disorders 32: 332–345. Tallaksen CM, Dürr A and Brice A (2001) Recent advances in hereditary spastic paraplegia. Current Opinion in Neurology 14: 457–463. [els.net]

[…] mutations are frequent in young-onset autosomal dominant spastic paraplegia Arch Neurol, 61 (12), 1867-72 DOI 10.1001/archneur.61.12.1867, PubMed 15596607 Tallaksen CM, Dietrichs E (2004) [The genetics of movement disorders--spinocerebellar degenerations [ous-research.no]

Movement Disorders. 2008;23(2):228-33. de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC. [en.wikipedia.org]

Defects in GJC2 are the cause of lymphedema hereditary type 1C (LMPH1C) [MIM:613480]. LMPH1C is a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. [abcam.com]

Patients with lymphedema suffer from recurrent local infections and physical impairment. Belongs to the connexin family. Gamma-type subfamily. [mybiosource.com]

Patients with lymphedema suffer from recurrent local infections and physical impairment. [uniprot.org]

Defects in this protein are the cause of leukodystrophy, hypomyelinating, 2 (HLD2), lymphedema, hereditary, 1C (LMPH1C), and spastic paraplegia 44, autosomal recessive (SPG44). [cags.org.ae]

P41250 pleiotropic Charcot-Marie-Tooth disease 2D (CMT2D) [MIM: 601472 ] Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM: 600794 ] GATA2 P23769 pleiotropic Immunodeficiency 21 (IMD21) [MIM: 614172 ] Myelodysplastic syndrome (MDS) [MIM: 614286 ] Lymphedema [sbg.bio.ic.ac.uk]

Thus, a careful medical history and clinical examination are necessary to exclude all other conditions that may cause similar symptoms, which include ALS, multiple sclerosis, collagen vascular diseases, depression, hypothyroidism, myasthenia gravis, inclusion [emedicine.medscape.com]

Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy. [link.springer.com]

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]

[…] below. 9 Further subdivision of pure HSP was also suggested by Harding based on the age of onset of the disease. [jnnp.bmj.com]

Normal results of muscle histochemical and biochemical analysis suggest that mitochondrial disturbance, a feature of chromosome 16-linked autosomal recessive HSP due to paraplegin gene mutations, is not a feature of chromosome 8q-linked autosomal dominant [neurology.org]

They are stained light red by methyl green-pyronin, which suggests that they have an RNA component. [emedicine.medscape.com]

Nevertheless, in all our patients, there was a relationship between the location and severity of white matter changes and the atrophy of the corpus callosum, suggestive of an atrophic process of the corpus callosum. [ajnr.org]

During follow-up, 94% developed sphincter problems, manifesting as urinary as well as fecal incontinence in 44%. Obesity was seen in 14 patients in total (78%), of whom 9 were non-ambulatory. [nature.com]

In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Defects in GJC2 are the cause of lymphedema hereditary type 1C (LMPH1C) [MIM:613480]. [abcam.com]

In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG21 is associated with dementia and other central nervous system abnormalities. [genecards.org]

In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Defects in GJC2 are the cause of lymphedema hereditary type 1C (LMPH1C). [mybiosource.com]

In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [uniprot.org]

Spastic paraplegia type 44, AR (SPG44, sequence analysis of GJC2 gene) This is a clinical test intended for Help Purposes or indications for the test. Lab-provided. : Diagnosis 1 condition tested. Click Indication tab for more information. [ncbi.nlm.nih.gov]

Company Science NGS Panel – Genetic Testing for Spastic Paraplegia Hereditary Spastic Paraplegia (HSP), Spastic paraplegia, SPG, Familial Spastic Paraplegia, Hereditary Spastic Paraparesis, Strumpell-Lorrain Syndrome Hereditary Spastic Paraplegia (HSP [centogene.com]

Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. [ghr.nlm.nih.gov]

Hereditary spastic paraplegia Bibliography Baraitser M. ; Motulsky AG, Bobrow M, Harper PS, Scriver C, editors.The Genetics of Neurological Disorders. 2nd ed. New York: Oxford University Press, 1990; 15, Spastic paraplegia/HSP. p. 275-90. [med.umich.edu]

Fink JK: Hereditary spastic paraplegia. In Neurogenetics. Edited by Lynch DR, Farmer JM. Philadelphia: WB Saunders; 2002:711–726. Google Scholar 102. Fink JK: Hereditary spastic paraplegia. [link.springer.com]

She has received many awards, among others the European Dystonia Society David Marsden Award and the AAN Jon Stolk Award in Movement Disorders for Young Investigators. [books.google.com]

Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM: 612718 ] GBA2 Q9HCG7 non-pleiotropic Spastic paraplegia 46, autosomal recessive (SPG46) [MIM: 614409 ] GCDH Q92947 non-pleiotropic Glutaric aciduria 1 (GA1) [MIM: 231670 ] GCH1 P30793 pleiotropic Dystonia [sbg.bio.ic.ac.uk]

Edvardson S, Hama H, Shaag A, et al. (2008) Mutations in the fatty acid 2‐hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. American Journal of Human Genetics 83: 643–648. [els.net]

[…] frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases J Med Genet, 43 (3), 259-65 DOI 10.1136/jmg.2005.035311, PubMed 16055926 Dietrichs E, Tallaksen CM (2004) [Genetics in movement disorders--dystonia [ous-research.no]

Fink JK, Filling-Katz M, Barton NW, et al.: Treatable dystonia presenting as spastic cerebral palsy. Pediatrics 1988, 82 :138. Google Scholar 70. [link.springer.com]

HLD2 is an autosomal recessive hypomyelinating leukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria and progressive spasticity. [abcam.com]

Dysarthria and bladder dysfunction are often present. Cerebellar ataxia is common and some patients first present with this as a prominent sign in the first and second decades. [disorders.eyes.arizona.edu]

Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. [uniprot.org]

66 dysarthria and mild facial immobility, 40 cardiac disease, 32 epilepsy, 39 and in the Mast syndrome which consists of spastic paraplegia with dementia, dysarthria, and athetosis. 62 Dementia has also been reported in both autosomal dominant and recessive [jnnp.bmj.com]

People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. [ghr.nlm.nih.gov]

The gait is spastic with weakness, hyperreflexia, and extensor plantar responses in the lower limbs. The upper limbs are variably involved and movements are dysmetric. Dysarthria and bladder dysfunction are often present. [disorders.eyes.arizona.edu]

Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign. [journals.plos.org]

Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A [centogene.com]

Upper limb involvement is relatively uncommon and usually consists of mild hyperreflexia, which may be present early in the disease. A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

Nystagmus, truncal ataxia and incordination of movements were present. Fundus examination showed bilateral optic atrophy. [ijmr.org.in]

Optic atrophy and nystagmus have not been reported. Systemic Features: Stiffness and weakness of the lower limbs begins between 2 and 20 years of age. [disorders.eyes.arizona.edu]

HLD2 is an autosomal recessive hypomyelinating leukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria and progressive spasticity. [abcam.com]

Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. [uniprot.org]