keyword
MENU ▼
Read by QxMD icon Read
search

Hereditary spastic diplegia

keyword
https://www.readbyqxmd.com/read/24363206/retrospective-study-of-the-investigations-of-children-presenting-with-lower-limbs-spasticity-in-a-single-institution
#1
Carlotta Spagnoli, Carlos de Sousa
OBJECTIVES: This retrospective study was undertaken to identify how children with spasticity entirely or mainly affecting lower limbs are investigated in a single institution, to address the diagnostic yield of these investigations, and to establish an improved diagnostic algorithm. METHODS: Clinical documents regarding children referred to our institution for the diagnostic investigation of spastic diplegia and receiving their first clinical appointment between the July 1, 2010, and the December 31, 2010, were identified in our electronic database...
April 2014: Neuropediatrics
https://www.readbyqxmd.com/read/23085499/full-body-gait-analysis-may-improve-diagnostic-discrimination-between-hereditary-spastic-paraplegia-and-spastic-diplegia-a-preliminary-study
#2
A Bonnefoy-Mazure, K Turcot, A Kaelin, G De Coulon, S Armand
Hereditary spastic paraplegia (HSP) and spastic diplegia (SD) patients share a strong clinical resemblance. Thus, HSP patients are frequently misdiagnosed with a mild form of SD. Clinical gait analysis (CGA) has been highlighted as a possible tool to support the differential diagnosis of HSP and SD. Previous analysis has focused on the lower-body but not the upper-body, where numerous compensations during walking occur. The aim of this study was to compare the full-body movements of HSP and SD groups and, in particular, the movement of the upper limbs...
January 2013: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/22633632/clinical-features-and-neurologic-progression-of-hyperargininemia
#3
Daniel R Carvalho, Jaime M Brum, Carlos E Speck-Martins, Fabrício D Ventura, Mônica M M Navarro, Kátia E F A Coelho, Dalton Portugal, Riccardo Pratesi
Hyperargininemia is an autosomal recessive metabolic disorder caused by a deficiency of enzyme arginase I. It is a rare pan-ethnic disease with a clinical presentation distinct from that of other urea cycle disorders, and hyperammonemic encephalopathy is not usually observed. Hyperargininemia is one of the few treatable causes of pediatric spastic paraparesis, and can be confused with cerebral palsy. We retrospectively evaluated the clinical onset, neurologic manifestations, progression of abnormalities, electroencephalographic abnormalities, and laboratory findings of 16 Brazilian patients with hyperargininemia...
June 2012: Pediatric Neurology
https://www.readbyqxmd.com/read/20883264/an-indian-family-with-sj%C3%A3-gren-larsson-syndrome-caused-by-a-novel-aldh3a2-mutation
#4
Kaori Sakai, Masashi Akiyama, Teruki Yanagi, Sheela Nampoothiri, Tony Mampilly, V Sunitha, Hiroshi Shimizu
Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder characterized by congenital ichthyosis, mental retardation and spastic diplegia or tetraplegia. It is known that mutations in the fatty aldehyde dehydrogenase (FALDH) gene (ALDH3A2) underlie SLS. We report two Indian sisters showing typical clinical features of SLS. Direct sequencing of the entire coding region of ALDH3A2 revealed a novel homozygous mutation, c.142G>T (p.Asp48Tyr) in exon 1, in both patients. Their parents harbored the mutation heterozygously...
September 2010: International Journal of Dermatology
https://www.readbyqxmd.com/read/20829081/3d-gait-analysis-in-patients-with-hereditary-spastic-paraparesis-and-spastic-diplegia-a-kinematic-kinetic-and-emg-comparison
#5
COMPARATIVE STUDY
Luigi Piccinini, Veronica Cimolin, Maria Grazia D'Angelo, Anna Carla Turconi, Marcello Crivellini, Manuela Galli
The predominant clinical feature of patients with Hereditary Spastic Paraparesis (HSP) is gait disturbance owing to spasticity and weakness of the lower limbs; the spasticity in early-onset disease (infancy or childhood) often cannot be distinguished from mild form of spastic diplegia (SD). The aim of this study was to quantify the gait strategy in HSP and SD children, focusing on the differences between groups as concerns functional limitation during gait. 9 HSP and 16 SD children were evaluated using Gait Analysis; kinematic and kinetic parameters and EMG pattern during walking were identified and calculated to compare the two gait strategies...
March 2011: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/20163870/patients-with-sj%C3%A3-gren-larsson-syndrome-lack-macular-pigment
#6
Rob L P van der Veen, Joris Fuijkschot, Michèl A A P Willemsen, Johannes R M Cruysberg, Tos T J M Berendschot, Thomas Theelen
PURPOSE: Sjögren-Larsson syndrome (SLS), an autosomal recessive hereditary disorder with congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation, reveals a characteristic macular dystrophy with intraretinal crystals and foveal pseudocysts. Ophthalmic symptoms in SLS are reduced visual acuity and photophobia. This article reports the deficiency of macular pigment as a novel finding in this peculiar, congenital maculopathy. DESIGN: Cross-sectional, observational case study...
May 2010: Ophthalmology
https://www.readbyqxmd.com/read/20142464/a-very-rare-neurocutaneous-disorder-in-2-siblings-sj%C3%A3-gren-larsson-syndrome
#7
Ahmet Okay Caglayan, Hakan Gumus
Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. It is caused by the deficient activity of fatty aldehyde dehydrogenase. In this report, the authors describe 2 siblings with Sjögren-Larsson syndrome. Both the patients had generalized ichthyosis, and the older one had spastic paraplegia and mental retardation, and the fundus examination revealed foveal and parafoveal glistening dots. The authors report the large kinship with Sjögren-Larsson syndrome, which is a rare and most probably underdiagnosed syndrome...
August 2010: Journal of Child Neurology
https://www.readbyqxmd.com/read/17509240/are-patients-with-hereditary-spastic-paraplegia-different-from-patients-with-spastic-diplegia-during-walking-gait-evaluation-using-3d-gait-analysis
#8
COMPARATIVE STUDY
Veronica Cimolin, Luigi Piccinini, Maria Grazia D'Angelo, Anna Carla Turconi, Matteo Berti, Marcello Crivellini, Giorgio Albertini, Manuela Galli
Patients with hereditary spastic paraplegia (HSP) often resemble patients with mild spastic diplegia (SD), although their motor limitations differ. The aim of this study was to analyse quantitatively the gait of HSP and SD subjects in order to define the gait pattern in HSP and the differences between the two conditions. Fifteen subjects with HSP, 40 patients with SD and 20 healthy subjects underwent gait analysis (GA). The spatio-temporal and kinematic parameters at the proximal joints were found to be similar in HSP and SD, whereas the most significant differences were found at the knee and ankle joints...
January 2007: Functional Neurology
https://www.readbyqxmd.com/read/17156709/proton-magnetic-resonance-spectroscopy-findings-and-clinical-effects-of-montelukast-sodium-in-a-case-with-sj%C3%A3-gren-larsson-syndrome
#9
Ozgur Pirgon, Kursad Aydin, M Emre Atabek
Sjögren-Larsson syndrome is a rare hereditary metabolic disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. This genetic disease is caused by fatty acid aldehyde dehydrogenase deficiency, leading to an accumulation of long-chain alcohols. The role of enzyme in the degradation of leukotrienes paved the way to the development of a new therapeutic strategy for Sjögren-Larsson syndrome, leukotriene antagonists. We describe a 3-year-old boy with Sjögren-Larsson syndrome who had a lipid peak on proton magnetic resonance spectroscopy despite normal findings on cerebral magnetic resonance imaging...
December 2006: Journal of Child Neurology
https://www.readbyqxmd.com/read/16533974/de-novo-occurrence-of-novel-spg3a-atlastin-mutation-presenting-as-cerebral-palsy
#10
COMPARATIVE STUDY
Shirley Rainier, Carron Sher, Orit Reish, Donald Thomas, John K Fink
BACKGROUND: Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. For many subjects with an SPG3A mutation, spastic gait begins in early childhood and does not significantly worsen even over many years. Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported. OBJECTIVE: To analyze the SPG3A coding sequence in an individual with childhood-onset spastic gait, who, prior to the birth of her similarly affected child, had no previous family history of hereditary spastic paraplegia...
March 2006: Archives of Neurology
https://www.readbyqxmd.com/read/13517403/-hereditary-infantile-spastic-diplegia-and-its-relation-to-familial-spastic-spinal-paralysis
#11
H HOHMANN
No abstract text is available yet for this article.
July 20, 1957: Der Nervenarzt
https://www.readbyqxmd.com/read/7975996/-catecholamines-and-the-dopamine-beta-hydroxylase-activity-of-the-blood-plasma-in-motor-pathology-in-children-the-role-of-central-and-peripheral-mechanisms
#12
COMPARATIVE STUDY
I L Brin, A Z Drozdov, I A Kovaleva, T S Filatova, B M Kogan
Plasma catecholamine levels and serum dopamine-beta-hydrolase (D beta H) activity were investigated using high-performance chromatography and spectrophotometry, respectively, in 32 patients aged 10-14 with various motor pathology. Group 1 patients (21 children with spastic diplegia and clinical signs of central catecholaminergic neuromediation deficiency) received Nakom in a single daily dose 60 mg in the morning. The treatment produced a good clinical effect. Six children of group 2 with hereditary degenerative cerebral, spinal, nervous diseases and 5 children of group 3 with lower spastic paraplegia consequent to spinal cord trauma inflicted 6-12 months: before received Nakom in a single daily dose 30 mg in the morning for 14 days...
1994: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/3662583/fluctuating-dystonia-responsive-to-levodopa
#13
H Costeff, N Gadoth, L Mendelson, S Harel, P Lavie
Four cases of hereditary progressive dystonia with diurnal fluctuation were studied. All were sporadic; three of them mimicked spastic diplegia; and the fourth showed some similarity to torsion dystonia. Emotional or cognitive disturbance, or both, was seen in three. The correct diagnosis was suggested by fluctuating signs and symptoms, which worsened towards evening, but this was reached only after many years of handicap, hospital admissions, and invasive diagnostic procedures. Typically there was a prompt, pronounced, and sustained response to moderate doses of levodopa...
August 1987: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/2591069/hereditary-spastic-diplegia-with-mental-retardation-in-two-young-siblings
#14
K H Gustavson, K Modrzewska, A Erikson
Two young siblings with hereditary spastic diplegia and mental retardation (Böök's syndrome) have had detailed clinical investigations since infancy. The inheritance pattern of this syndrome in the present family fits well with an autosomal recessive trait--with affected sibs of opposite sex, born to consanguineous healthy parents.
December 1989: Clinical Genetics
https://www.readbyqxmd.com/read/1899474/dopa-responsive-dystonia-long-term-treatment-response-and-prognosis
#15
T G Nygaard, C D Marsden, S Fahn
We report observations on the treatment of 66 patients with presumed dopa-responsive dystonia (DRD). Forty-seven of these patients had hereditary disease; 19 had disease of sporadic occurrence. Initial diagnostic confusion with "cerebral palsy" or "spastic diplegia" existed in 16 patients. Several patients benefited from anticholinergic medications and a few from carbamazepine. Levodopa was the most effective treatment in all cases. In the majority, there was an excellent response, with continued long-term clinical stability on levodopa therapy for as long as 10 to 22 years...
February 1991: Neurology
https://www.readbyqxmd.com/read/1261070/familial-spastic-paraplegia-with-distal-muscle-wasting-in-the-old-order-amish-atypical-troyer-syndrome-or-new-syndrome
#16
G Neuhäuser, C Wiffler, J M Opitz
The Troyer syndrome was found by Cross & McKusick (1967) in 20 members of 12 Old Order Amish families in Holmes County, Ohio; it is a form of hereditary spastic paraplegia combined with distal muscle wasting, i.e. signs of involvement of lower motor neurons. The condition usually begins at 1 to 2 years and progresses at variable rates. Further manifestations include growth retardation, delayed speech development with dysarthria and drooling, and cerebellar signs; mental functions are usually not affected but severe emotional lability is a common finding...
March 1976: Clinical Genetics
1
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"