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Autosomal Dominant Spastic Paraplegia Type 31



  • In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.[orpha.net]
  • The full spectrum of diseases involving spasticity in adults and children and the unique diagnostic and management challenges they present is addressed by experienced clinicians.[books.google.com]
  • As the literature shows, the onset of the illness manifested itself in the patient cohort of the present paper in childhood and adolescence.[ediss.uni-goettingen.de]
  • Methods Subjects 162 unrelated patients with clinical symptoms of 'pure' HSP and a positive family history (at least two persons per family presented symptoms) were analysed in this study.[bmcmedgenet.biomedcentral.com]
  • […] muscle atrophy Patellar 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]
Heart Failure
  • Cardiac disease is frequently present and heart failure is the most common cause of death. Most patients have hypertrophic cardiomyopathy with characteristic EKG changes and some have subaortic stenosis as part of the hypertrophied myocardium.[disorders.eyes.arizona.edu]
  • In addition, progressive deafness, diabetes and heart failure resulting from cardiomyopathy are present in most cases.[neuroweb.us]
Retinal Pigmentation
  • pigmentation, mental retardation, deafness, optic atrophy or seizures [ 1, 2 ].[bmcmedgenet.biomedcentral.com]
  • Joshita Y, Yamamoto Y and Satoh Y (1982) Two siblings of familial spastic paraplegia with retinal pigment degeneration (sine pigment). Rinshō Shinkeigaku 22: 789–794.[els.net]
  • However, occasional reports of abnormalities have included increased protein concentrations in complicated families and raised homocarnosine concentrations in a complicated family with spastic paraplegia, progressive mental deficiency, and retinal pigmentation[jnnp.bmj.com]
Urinary Retention
  • Autonomic dysfunction in form of tachycardia, hypertension, and urinary retention are common. NCVs are consistent with axonal neuropathy. Very often patients are labeled as hysterical and have a drug-seeking behavior.[neuroweb.us]
  • Hokkaido J Med Sci 80 185-189 2005年 [査読有り] A case of acute urinary retention caused by periaqueductal grey (PAG) lesion. Yaguchi, H., Soma, H., Miyazaki, Y., Tashiro, J., Yabe, I.[researchmap.jp]
  • Paraplegia 24, Autosomal Recessive Summaries for Spastic Paraplegia 24, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia[malacards.org]
  • Neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished vibratory sense in the feet, and pes cavus.[neurology.org]
  • […] in upper limbs 0007350 Impaired proprioception 0010831 Lower limb hyperreflexia Overactive lower leg reflex 0002395 Pes cavus High-arched foot 0001761 Proximal lower limb amyotrophy Wasting of thigh muscle 0008956 5%-29% of people have these symptoms[rarediseases.info.nih.gov]
Spastic Gait
  • gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood ( 30 years).[orpha.net]
  • Orpha Number: 101011 Disease definition A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood[rarediseases.info.nih.gov]
Babinski Sign
  • Babinski sign was negative. Video gait analysis was performed, which showed internal rotation of the hips and feet while walking and running. When walking barefooted she dragged the upper side of her toes, this was more pronounced when running.[omicsonline.org]
  • Clinically it is divided into a 'pure' or uncomplicated form with progressive spasticity as major symptom, associated with brisk reflexes, muscle weakness, positive Babinski's sign and urinary urgency as well as a 'complicated' form accompanied with other[bmcmedgenet.biomedcentral.com]
  • sign 0003487 Lower limb muscle weakness Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ] 0007340 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Spastic paraplegia 0001258 Variable expressivity[rarediseases.info.nih.gov]
Lower Extremity Spasticity
  • Leppert First published February 1, 1995, DOI: Abstract Article abstract—“Familial spastic paraplegia” (FSP) refers to clinically and genetically diverse syndromes characterized by insidiously progressive lower extremity spasticity.[neurology.org]
  • extremity spasticity and weakness.[flybase.org]
  • All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness.[invitae.com]
Responsiveness Decreasing
  • HSP is generally classified as pure when lower limb spasticity and weakness, hyperreflexia, extensor-plantar responses, decreased vibration sense at the ankles, bladder dysfunction, pes cavus and scoliosis are the only signs; if there are additional neurologic[omicsonline.org]


  • High-arched feet (pescavus) are generally present and are usually prominent in older patients. workup Genetic Testing 43. Imaging Studies MRI scans may demonstrate atrophy of the spinal cord.[slideshare.net]
  • Clinical characterization of individual and familial history represents the main step during diagnostic workup; however, frequently, few and unspecific data allows a low rate of definite diagnosis based solely in clinical and neuroimaging basis.[link.springer.com]


  • A Doody's Core Title 2012 Spasticity: Diagnosis and Management is the first book solely dedicated to the diagnosis and treatment of spasticity.[books.google.com]
  • The information obtained from validated rating scales (SPRS and SF-36), TMS, and serum biomarkers, will allow for the development of treatment trials.[clinicaltrials.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment Treatment Options: No treatment is known for the basic disease but physical therapy and low vision aids are likely beneficial.[disorders.eyes.arizona.edu]


  • 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, 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]
  • Favorable prognosis is indicated by preserved action potential preserved R1 or reappearance of R1 after 3 weeks. About 15% of patients will have permanent sequelae.[neuroweb.us]
  • 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]
  • The wide range of disease severity and the overlapping of many signs can make pedigree construction and the determination of recurrence risks and prognosis challenging. The only recourse may be genotyping.[disorders.eyes.arizona.edu]


  • The increasing availability of WES in clinical practice will undoubtedly broaden the known clinical and etiological spectrum of DRD. Our case supports the notion that DRD is a syndrome with multiple etiologies and clinical phenomenologies.[movementdisorders.org]
  • 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]
  • Early ( 45 years) and late-onset RLS differ etiologically.[neuroweb.us]


  • Consequently, they are often approached together in epidemiological studies.[karger.com]
  • A population-based survey from 1993-2004 and a retrospective medical record review allowed a systematic review of clinical, genetic, and epidemiologic features of 89 Portuguese families, who had a total of 239 patients with autosomal dominant hereditary[medscape.com]
  • Relevant External Links for REEP1 Genetic Association Database (GAD) REEP1 Human Genome Epidemiology (HuGE) Navigator REEP1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: REEP1 No data available for Genatlas for REEP1 Gene Autosomal dominant[genecards.org]
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
Sex distribution
Age distribution


  • Spasticity: Diagnosis and Management clearly defines the process for the diagnosis of spasticity, the basic science behind its pathophysiology, the measurement tools used for evaluation, and reviews the available treatment options.[books.google.com]
  • DESIGN This is an observational study of autosomal dominant forms of hereditary spastic paraplegia progression, pathophysiology, and biomarkers.[clinicaltrials.gov]
  • PATHOPHYSIOLOGY 6. Impaired cellular membrane trafficking 7. More particularly axonal transport of macromolecules and organelles. 8. Mutation of proteins, spastin and atlastin-1 causes impaired cellular membrane trafficking.[slideshare.net]
  • 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]


  • Treating hereditary spastic paraplegia It isn't possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier.[nhs.uk]
  • TREATMENT Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with HSP.[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]
  • Extra genetic material from the X chromosome interferes with male sexual development, preventing the testicles from functioning normally, males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two[wikivisually.com]
  • Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology.[karger.com]

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