Presentation
He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.com]
In severe form of Cervical Myelopathy causes muscle weakness in all 4 limbs with sensory disturbances.Pathological reflexes are also present. Hoffmann's sign and Babinski's sign also can be seen. [explainmedicine.com]
Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessives, and X-Linked Phenotypes presents catalogs in connection with the genetics of the X chromosome. [books.google.ro]
Table 1: Clinical presentation of patients with the 15q11.2 microdeletion. [omicsonline.org]
Entire Body System
- Swelling
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Hum Mol Genet. 2006 Dec 15. 15(24):3544-58. [Medline]. [emedicine.medscape.com]
Tendon Reflex (PTR) − ++ Achilles Tendon Reflex (ATR) + − − Babinski sign + + Vibration sense Normal Normal Sphincter involvement − − Mini-Mental State Examination (MMSE) 16/30 25/30 Lower limb NCV FWCV decreased Decreased Sural nerve biopsy Axonal swelling [intechopen.com]
Histological analysis of the spinal cord showed axonal swelling, particularly in the lateral columns of the lumbar spinal cord, consistent with a retrograde axonopathy. [24] SPG8 603563 KIAA0196 8q24.13 Autosomal dominant SPG9 601162 SPG9 10q23.3–q24.1 [psychology.wikia.com]
Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. Journal of Neurology, Neurosurgery and Psychiatry, 68, 483-488. [More Information] [sydney.edu.au]
These investigators presented the case of a 29-year old patient who was referred to their department for an asymmetric swelling of the masticatory muscles. [aetna.com]
Musculoskeletal
- Myopathy
With External Ophthalmoplegia, Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset AD,AR 97.63 733 of 746 SCN4A Congenital [igenomix.es]
Rare neurologic disease 1 0 0 Intermediate nemaline myopathy Rare neurologic disease 2 0 0 Intermediate nemaline myopathy Rare neurologic disease 2 0 0 Typical nemaline myopathy Rare neurologic disease 2 0 0 Typical nemaline myopathy Rare neurologic [mousebook.org]
actin, congenital, with cores 161800 102610 Autosomal dominant; Autosomal recessive ACTA1 1q42.13 Myopathy, actin, congenital, with excess of thin myofilaments 161800 102610 Autosomal dominant; Autosomal recessive ACTA1 1q42.13 Nemaline myopathy 3, [mnglabs.com]
Nemaline myopathy, Mitochondrial myopathy ) - Myopathy - Periodic paralysis ( Hypokalemic, Hyperkalemic ) - Lambert-Eaton myasthenic syndrome Autonomic Familial dysautonomia - Horner's syndrome - Multiple system atrophy ( Shy-Drager syndrome, Olivopontocerebellar [psychology.wikia.com]
Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, et al. (2001) Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 29: 342–344. View Article Google Scholar 53. [journals.plos.org]
- Leg Weakness
“Paraparesis” indicates weakness in both legs of lesser severity than paraplegia. [rarediseases.org]
Neurologic
- Hyperreflexia
The SCA7 is found to be associated with retinopathy or blindness where as the SCA 8 may cause hyperreflexia, decreased sense of vibration, as well as ataxic dysarthria.[6]. [explainmedicine.com]
[…] spasticity is increased at the hamstrings, quadriceps and ankles Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles difficulty in walking, decreased vibratory sense at the ankles, and paresthesia In lower extremities hyperreflexia [slideshare.net]
Abstract We report a case of bilateral optic nerve hypoplasia in a patient with pupillary light-near dissociation, spastic paraparesis with deep hyperreflexia, mild distal hypotrophy especially of lower limbs, bilateral pes cavus and signs of motor peripheral [link.springer.com]
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]
- Spastic Gait
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]
Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder. [en.wikipedia.org]
Winner B, Uyanik G, Gross C et al. (2004) Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Archives of Neurology 61: 117–121. [els.net]
Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet [rarediseases.org]
- Babinski Sign
Hoffmann's sign and Babinski's sign also can be seen. Type III syndrome is characterized by neck pain which radiates to the medial scapula, chest wall, shoulder area, or head.[4]. [explainmedicine.com]
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]
III-1 III-3 Age at examination 63 53 Onset 58 48 Leg spasticity − + Limb ataxia + + Thigh muscle atrophy + + Patellar Tendon Reflex (PTR) − ++ Achilles Tendon Reflex (ATR) + − − Babinski sign + + Vibration sense Normal Normal Sphincter involvement − − [intechopen.com]
Pedigree number Gender Age at examination (years) Onset of symptoms  (years) SPRS SARA INAS Hyperreflexia UL/LL Babinski sign Clonus Decreased vibration sense Bladder disturbances Degree of disability MMSE Other signs PED1/II-1 proband M 56 40 24/52 [omicsonline.org]
- Areflexia
Chromosome 5q14.3 deletion syndrome 613443 600662 Autosomal dominant MEFV 16p13.3 Familial Mediterranean fever, AR 249100 608107 Autosomal recessive MEFV 16p13.3 Familial Mediterranean fever, AD 134610 608107 Autosomal dominant MEGF10 5q23.2 Myopathy, areflexia [mnglabs.com]
Workup
Our findings confirm that this is indeed not an uncommon presentation of this disorder and we suggest that SPG7 gene analysis should be included in the diagnostic workup of autosomal recessive PEO, especially if spasticity is present. [journals.plos.org]
Saliva
- Excessive Drooling
FDA approval for Xeomin (incobotulinumtoxinA) for the treatment of chronic sialorrhea, or excessive drooling, in adult patients 18 years of age and older. [aetna.com]
Treatment
Surgical treatment was reported in patients with very severe symptoms refractory to pharmacologic treatment. [aetna.com]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
Gilbert directs or participates in a number of single and multi-center studies into causes and treatments of Tourette's syndrome. Dr. [books.google.com]
Prognosis
Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. [en.wikipedia.org]
Prognosis: predicting symptoms and course of HSP As noted above, there is significant variation in HSP symptoms and their severity. This limits the certainty of making predictions. [rarediseases.org]
Prognosis Edit Although HSP is a progressive condition and usually starts in the legs and spreads to other muscles, ultimately leading to confinement to bed, the prognosis for individuals with HSP varies greatly. [psychology.wikia.com]
[…] inversely correlated with quality of life in a previous study. 31 As the majority of patients in our cohort who met the clinical criteria for HSP did not have a genetic diagnosis, this illustrates the need for studies of clinical parameters which influence prognosis [ng.neurology.org]
Etiology
Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. [oxfordmedicine.com]
Article / Publication Details First-Page Preview Abstract Objective: Investigation of etiological factors in mental retardation (MR). [karger.com]
Progressive multiple sclerosis MS is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system of unknown etiology. Peak age of onset in Primary progressive MS is around 40 years. [explainmedicine.com]
Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987 ; 41 : 933 –43 ↵ Goldblatt J, Ballo R, Sachs B, et al. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. [ajnr.org]
Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]
Epidemiology
Consequently, they are often approached together in epidemiological studies. [karger.com]
„Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study.” Neuroepidemiology, 2002;21: 241-245. [tankonyvtar.hu]
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]
The majority of individuals with HSP have a normal life expectancy. [16] Epidemiology [ edit ] Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [31] A Norwegian study of more than 2.5 [en.wikipedia.org]
Pathophysiology
His translational research-oriented laboratory focuses on autoimmune mechanisms in autism, PANDAS, the neurobiology of tics, and the pathophysiology of stereotypic movements in animal models. [books.google.com]
„New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.” J Neurol, 2011;258: 1594-602. Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez JJ, Infante J, Ramón C, Pelayo-Negro AL, Illa I. [tankonyvtar.hu]
Pathophysiology [ edit ] The major feature of HSP is a length dependent axonal degeneration. [21] These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis. [en.wikipedia.org]
Prevention
Treatment No specific treatment is known that would prevent, slow, or reverse HSP Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being 26. Gen. Spas ticity Oral Agents Foc. [slideshare.net]
This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]
Frovatriptan is effective for prevention of menstrual migraine (Level A). Lamotrigine is ineffective for migraine prevention (Level A). [aetna.com]
The majority of individuals with HSP have a normal life expectancy. [2] Treatment Edit No specific treatment is know that would prevent, slow, or reverse HSP. [psychology.wikia.com]
Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. [en.wikipedia.org]