Symptoma

Autosomal Recessive Spastic Paraplegia Type 23

SPG23

Abstract Three siblings in a Jordanian family presented with a distinctive syndrome consisting of disordered skin and hair pigmentation, progressive spastic paraparesis and peripheral neuropathy. [doi.org]

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of HSP that presents in early childhood. [cags.org.ae]

HSP is classified according to the clinical phenotype as either pure or complex, the latter presenting with neurological and systemic impairments in addition to spastic paraparesis. [journals.lww.com]

Muscle weakness when present is seen in iliopsoas, tibialis anterior and, to a lesser extent, the hamstrings. [jnnp.bmj.com]

The sister carrying the R294H variant had an ataxic gait and hand tremor at 3 years, which was not present in her sister. [epilepsygenetics.net]

  • Developmental Disabilities

    disability, and seizures 617157 610087 Autosomal recessive PRNP 20p13 {Kuru, susceptibility to} 245300 176640 PRNP 20p13 Huntington disease-like 1 603218 176640 Autosomal dominant PRNP 20p13 Cerebral amyloid angiopathy, PRNP-related 137440 176640 Autosomal [mnglabs.com]

  • Premature Graying of the Hair

    SPG23 is an autosomal recessive form characterized by childhood-onset of gait difficulties and pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. [ghr.nlm.nih.gov]

    SPG23 is an autosomal recessive form characterized by childhood-onset of gait difficulties and pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. {ECO:0000269 PubMed:28157540}. [genecards.org]

    graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). [rarediseases.info.nih.gov]

  • Hyperpigmentation

    Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation [rarediseases.info.nih.gov]

    […] consistent with any of the following: A relative with a known deleterious STK11 (LKB1) gene mutation; or A clinical diagnosis of PJS based on at least 2 of the following features: At least 2 PJS-type hamartomatous polyps of the small intestine; Mucocutaneous hyperpigmentation [aetna.com]

  • Freckles

    Albinism (hair) Irregular decreased skin pigmentation Excessive freckling Insensitivity to pain Paraparesis/quadraparesis [en.wikipedia.org]

  • Hyperreflexia

    Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia [monarchinitiative.org]

    Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages. [thieme-connect.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]

    Showing of 25 30%-79% of people have these symptoms Bowel incontinence Loss of bowel control 0002607 Bowel urgency 0012701 Hyperreflexia Increased reflexes 0001347 Kyphoscoliosis 0002751 Multiple lentigines 0001003 Spastic gait Spastic walk 0002064 Spastic [rarediseases.info.nih.gov]

    Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3. [omicsonline.org]

  • Nystagmus

    […] posterior columns, spinocerebellar tracts, vestibular nuclei, red nuclei, pontine nuclei, and the inferior olivary nuclei). 3 In addition to imbalance (midline ataxia), poor limb coordination (dysmetria/dysdiadochokinesia), dysarthria, oscillopsia, and nystagmus [elsevier.es]

    There may be upper limb involvement and nystagmus. Some patients additionally present with parkinsonism or ataxia. [intechopen.com]

    Additional findings include upper limb hyperreflexia, sphincter dysfunction, spastic dysarthria, optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia [journals.plos.org]

    X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia. J Pediatr Ophthalmol Strabismus. 1988;25(1):33-36. Lorenz B, Andrassi M, Miliczek KD. [aetna.com]

    […] syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Autosomal recessive cerebellar ataxia-psychomotor delay syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor [orpha.net]

  • Babinski Sign

    sign 0003487 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Hyperpigmentation in sun-exposed areas Increased pigmentation in sun-exposed [rarediseases.info.nih.gov]

    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]

    Detailed neurological examination showed predominantly bilateral proximal pronounced paresis (3/4) of the lower limbs with hyperreflexia and positive bilateral Babinski sign. He also complains about urinary urgency. [omicsonline.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 Mini-Mental State Examination [intechopen.com]

    sign, and scoliosis; within 10 to 15 years of onset, patients have to use wheelchairs. 22 In addition to axonal sensory polyneuropathy, auditory and optic neuropathy are also frequently observed. [elsevier.es]

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]

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]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

As new HSP therapies emerge, genetic advancement may further contribute to improved outcomes by allowing clinicians to better personalize treatment, tailoring therapy to the individual genetic profile of each patient. 1 Diagnosing Hereditary Spastic Paraplegia [raredr.com]

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]

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]

Abstract Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. [nature.com]

Prognosis 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. [ipfs.io]

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]

Identification of the specific mutation concerned is essential to establishing a prognosis and providing satisfactory treatment and proper genetic counselling. [elsevier.es]

Disorders, the prognosis of which differs significantly from HSP, such as multiple sclerosis and familial motor neuron disease should also be excluded. The necessity for investigations will vary depending on the individual clinical picture. [jnnp.bmj.com]

Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. [oxfordmedicine.com]

Risch N et al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [ ] 26. [moldiag.com]

[…] associated with immediate pain relief, improved quality of sleep and improved mobility. 1 At this point, the preponderance of clinical research related to HSP remains early-stage, focused on gaining a deeper understanding of the disease process and its etiology [raredr.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]

Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology. [aetna.com]

Consequently, they are often approached together in epidemiological studies. [karger.com]

Phenotypes Session Information Genetically-Defined Kidney Diseases: From Variant Calling to Treatment November 03, 2017 Location: Room 392, Morial Convention Center Abstract Time: 05:42 PM - 05:54 PM Category: Genetic Diseases of the Kidney 803 Genetic Epidemiology [asn-online.org]

Jorde LB et al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [ ] 6. Abramson RK et al. (1989) Elevated blood serotonin in autistic probands and their first-degree relatives. [ ] 7. [moldiag.com]

Epidemiology Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [15] A Norwegian study of more than 2.5 million people published in March 2009 has found an HSP prevalence rate of 7.4/100,000 [ipfs.io]

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. [elsevier.es]

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]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

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]

Drooling may be caused by a facial disorder altering the mouth and face so that saliva drools out the sides, by the production of excessive saliva, by a blockage preventing swallowed fluids from staying down, or may be due to the person having difficulty [familydiagnosis.com]

There is no treatment that can prevent or reverse nerve degeneration in HSP. Oman Al-Yahyaee et al. (2006) described two families diagnosed with autosomal recessive hereditary spastic paraplegia. [cags.org.ae]

[…] factors), tracing the particular genetic inheritance pattern (autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive) and discovering the specific causative mutation involved in a patient’s HSP provides diagnostic certainty, prevents [raredr.com]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment No specific treatment is known that would prevent, slow, or reverse HSP. [ipfs.io]