Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.com]

Acronym SPG52 Synonyms Cerebral palsy, spastic quadriplegic 6 CPSQ6 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Clinical characteristics are presented in table 1. Neuropsychological tests revealed deficits of auditory short-term memory and visuomotor coordination. Table 1. Clinical characteristic of affected family members. [mdsabstracts.org]

Presentation on theme: "Spinal chord. [slideplayer.com]

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

• Asymptomatic

  The phenotype was one of pure HSP with a wide range of disease severity with some patients requiring a wheelchair whereas others remained asymptomatic at the age of 40 years. [jnnp.bmj.com]

  For example, they identified the SPG3A mutation V253I in a 70-year-old patient who was asymptomatic and had normal neurological examination findings; his mutation-bearing son developed HSP in his 20s; and his mutation-bearing grandson developed HSP before [neupsykey.com]

  Asymptomatic patients are also present. [emedicine.medscape.com]

  This issue is especially relevant in studies based on genetic centre records, where clinical inclusion criteria are clearly needed to differentiate clinically affected patients from asymptomatic or presymptomatic carriers. [karger.com]

  Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis. JAMA Neurology, 72(11), 1268-1274. [sydney.edu.au]

• Short Stature

  SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45 Is also known as ;autosomal recessive spastic paraplegia type 65; spg45; spg65 Related symptoms: Autosomal recessive inheritance Intellectual disability Global developmental delay Short stature Microcephaly [mendelian.co]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

  Category Subcategory Feature Growth Height Short stature Head And Neck Head Microcephaly [ EoM Image ] Further information: Morphology of elements Mouth High-arched palate Full lips Wide mouth [ EoM Image ] Further information: Morphology of elements [mnglabs.com]

  Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 2011; 88(6):788-95. doi: 10.1016/j.ajhg.2011.04.019. [invitae.com]

  Slavotinek AM, Pike M and Mills K (1996) Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? American Journal of Human Genetics 62: 42–47. [els.net]

• Nausea

  Prolongs survival by 3-4 months, Cochran review 2005 Side effects include fatigue, nausea, diarrhoea and liver toxicity 51 Muscle weakness Aerobics, exercises to improve flexibility, force As the disease progresses the rehabilitation programme has to [slideplayer.com]

• Vomiting

  The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

• Psychomotor Retardation

  Systemic Features: Newborns are hypotonic and severe psychomotor retardation is evident a few months later. Truncal ataxia and progressive lower limb spasticity are seen later. [disorders.eyes.arizona.edu]

  Spinocerebellar ataxia autosomal recessive type 11: A slowly progressive new type of ARCA accompanied by psychomotor retardation has been recently described in a small consanguineous Japanese family with two affected individuals and is known as spinocerebellar [wjgnet.com]

• Bulbous Nose

  Prominent nose [ EoM Image ] Further information: Morphology of elements Bulbous nose [ EoM Image ] Further information: Morphology of elements Broad nasal bridge [ EoM Image ] Further information: Morphology of elements Inheritance - Autosomal recessive [mnglabs.com]

  Bulbous nose MedGen UID: 66013 • Concept ID: C0240543 • Finding Increased volume and globular shape of the anteroinferior aspect of the nose. [ncbi.nlm.nih.gov]

• Spastic Paraplegia

  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]

  MalaCards based summary : Spastic Paraplegia 26, Autosomal Recessive, also known as spg26, is related to hereditary spastic paraplegia and spastic paraplegia 26, and has symptoms including ataxia An important gene associated with Spastic Paraplegia 26 [malacards.org]

  Masatoyo Nishizawa 1 1 Department of Neurology, Brain Research Institute, Niigata University キーワード： hereditary spastic paraplegia, thin corpus callosum, dementia, autosomal recessive, SPG 11 Keyword: hereditary spastic paraplegia, thin corpus callosum [webview.isho.jp]

  AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. [ncbi.nlm.nih.gov]

  Refsum S and Skillicorn SA (1954) Amyotrophic familial spastic paraplegia. Neurology 4: 40–47. Reid E (2003a) Many pathways lead to hereditary spastic paraplegia. Lancet Neurology 2(4): 210. [els.net]

• Dysarthria

  Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive. [malacards.org]

  At age 51, he developed dysarthria and urinary dysfunction. Neurological examination at age 52 showed ataxic dysarthria, exaggerated patellar and Achilles tendon reflexes without Babinski signs and lower limb ataxia. [nature.com]

  Dysarthria is frequently present and some individuals have a neurosensory hearing loss. Myoclonic seizures may be evident. Kyphoscoliosis, macrocephaly, and various foot deformities have been described. [disorders.eyes.arizona.edu]

  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]

• Hyperreflexia

  […] mass Neurologic Central Nervous System Febrile seizures (in some patients) Focal seizures (in some patients) Spasticity Thin or absent corpus callosum (in some patients) Mental retardation, severe Delayed psychomotor development Loss of ability to walk Hyperreflexia [mnglabs.com]

  […] about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Arthritis and B-cell lymphoma, related diseases and genetic alterations Rod-cone dystrophy and Omphalocele, related diseases and genetic alterations Hyperreflexia [mendelian.co]

  Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. [ncbi.nlm.nih.gov]

  […] 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]

  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]

• Cerebellar Sign

  Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive. [malacards.org]

  signs and/or cerebellar atrophy on magnetic resonance imaging/computer tomography scan and/or optic neuropathy and without other signs) ( n = 24); patients with hereditary spastic paraparesis referred consecutively from attending neurologists and the [spatax.wordpress.com]

  Although spastic paraparesis is clearly the major sign in SPG30, superficial examination could miss the associated neurological signs (e.g. cerebellar signs) leading to the initial diagnosis of pure and not complicated HSP. [academic.oup.com]

  SPG7 is quite rare in Japan, but it should be included in the differential diagnosis for hereditary spastic-ataxic syndromes, even if the cerebellar signs are much more pronounced than the pyramidal tract signs. [nature.com]

  Cerebellar signs were present in 4 patients (family I) and consisted of a dysarthric cerebellar speech, dysmetria, and abnormal rapid alternating movements in the upper extremities. [ajnr.org]

• Babinski Sign

  His deep tendon reflexes were normal in the upper limbs but enhanced in the lower limbs, and Babinski sign was positive bilaterally. Extrapyramidal signs were not noted. His gait was wide-based, staggering and spastic. [nature.com]

  sign Other symptoms 1 + + + – + dysphagia 2 + + ++ – + hyperreactive bladder 3 + + + – + dystonic and cold foot 4 + + +++ – + hand and calf muscle atrophy SARA: Scale for the Assessment and Rating of Ataxia; MAS: Modified Ashworth Scale; SPRS: Spastic [mdsabstracts.org]

  Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. [mendelian.co]

  (From Adams et al., Principles of Neurology, 6th ed, p54) Babinski sign MedGen UID: 19708 • Concept ID: C0034935 • Finding A reflex characterized by upward movement of the great toe and an outward movement of the rest of the toes, when the sole of the [ncbi.nlm.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]

It is divided into the following sections: Overview Differential Diagnoses & Workup Treatment & Medication Follow-up Multimedia [hspersunite.org.au]

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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

37 Treatment Physical therapy Nerve and muscle trophic drugs Treatment of complications Treatment of heart disorders 38 Lateral Amiotrophic Sclerosis 39 Lateral Amiotrophic Sclerosis (ALS) Degenerative disease of the central nervous system Degeneration [slideplayer.com]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

Treatment Treatment Options: No treatment has been reported for this condition but physical therapy and assistive devices such as hearing and visual aids may be helpful. References Article Title: DDD study. [disorders.eyes.arizona.edu]

There are no specific treatments to prevent HSP. Management consists of symptomatic treatment and regular physical therapy to strengthen muscles. [cags.org.ae]

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]

Classifying HSP as uncomplicated or complicated is also important for prognosis. Families with “uncomplicated” HSP (e.g., HSP caused by SPG4 /spastin gene mutation) are not at risk of having offspring with “complicated” HSP. [neupsykey.com]

PMID: 16672289 Prognosis Pearce DA Hum Genet 1999 Jun;104(6):443-8. [ncbi.nlm.nih.gov]

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]

This distinction is important for genetic counseling of family members and for the patient’s prognosis, in that HSP generally carries a more favorable prognosis. [2] Other components of the differential diagnosis of HSP are similar to those of PLS. [emedicine.medscape.com]

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

Primary lateral sclerosis The etiology of primary lateral sclerosis (PLS) is unknown, but it may be similar to that proposed for ALS. [emedicine.medscape.com]

PMID: 15037681 Etiology J Neurol Sci 2014 Dec 15;347(1-2):368-71. Epub 2014 Oct 16 doi: 10.1016/j.jns.2014.10.017. PMID: 25454648 Aulitzky A, Friedrich K, Gläser D, Gastl R, Kubisch C, Ludolph AC, Volk AE J Neurol Sci 2014 Dec 15;347(1-2):352-5. [ncbi.nlm.nih.gov]

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]

Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA. [wjgnet.com]

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

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]

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. J Hum Genet 2014; 59 : 163–172. [nature.com]

Epidemiology The prevalence of HSP varies in different studies. Such variation is probably due to a combination of differing diagnostic criteria, variable epidemiological methodology, and geographical factors. [jnnp.bmj.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. [34] A Norwegian study of more than 2.5 [en.wikipedia.org]

J Clin Endocrinol Metab 93:2084–2088 CrossRef PubMed Google Scholar Werner ER, Blau N, Thöny B (2011) Tetrahydrobiopterin: biochemistry and pathophysiology (review). [link.springer.com]

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]

Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ]. [wjgnet.com]

This is the first step towards the identification of a new gene crucial for understanding the underlying pathophysiology of HSP. [academic.oup.com]

Pathophysiological insights into ALS with C9ORF72 expansions. Journal of Neurology, Neurosurgery and Psychiatry, 84(8), 931-935. [sydney.edu.au]

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]

There are no specific treatments to prevent HSP. Management consists of symptomatic treatment and regular physical therapy to strengthen muscles. [cags.org.ae]

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]

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [ncbi.nlm.nih.gov]