ORPHA:320355 Synonym(s): SPG41 Prevalence: Inheritance: Autosomal dominant Age of onset: Adolescent, Adult ICD-10: G11.4 OMIM: 613364 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only [orpha.net]

Jankovic is the recipient of many other honors including the American Academy of Neurology (AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease [books.google.com]

Urinary symptoms, such as incontinence, are present in up to 50% of individuals diagnosed with HSP [11]. [physio-pedia.com]

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

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

• Respiratory Insufficiency

  It can also provide non-invasive ventilation for patients with respiratory insufficiency in the hospital or home. Professional precision Innovative tracking technology ensures accurate and comfortable therapy. [craftopoulos.gr]

  However, patients with PPS commonly develop new disabilities that cause significant morbidity, such as orthopedic complications (eg, progressive instability of joints, osteoporosis, fractures, osteoarthrosis, scoliosis, and spondylosis), respiratory insufficiency [emedicine.medscape.com]

• Proximal Muscle Weakness

  muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. [orpha.net]

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

• Proximal Muscle Weakness of the Lower Extremity

  muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. [orpha.net]

• Small Hand

  hand muscles, hyperreflexia, spastic gait and mild urinary compromise. [orpha.net]

• Nocturia

  […] et al (2011) wrote that nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure in children and young adults; early presenting symptoms in children with NPHP include polyuria, nocturia [aetna.com]

• Onset in Adolescence

  Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 41 Disease definition A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic [orpha.net]

• Hyperreflexia

  […] paraplegia type 41 Disease definition A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia [orpha.net]

  Affiliated tissues include globus pallidus, skin and bone, and related phenotypes are babinski sign and lower limb hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the CYP2U1 gene on chromosome [malacards.org]

  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]

  […] whether the disorder is a pure spastic paraplegia or a more complex syndrome with other associated features. 1 Autosomal dominant pure spastic paraplegia (ADPSP) is clinically characterised by slowly progressive spasticity and weakness of the legs, hyperreflexia [jnnp.bmj.com]

  The key diagnostic findings are lower limb weakness, increased muscle tone, hyperreflexia, extensor plantar responses, and gait spasticity [ 2 ]. [bmcneurol.biomedcentral.com]

• Spastic Gait

  gait and mild urinary compromise. [orpha.net]

  If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [ipfs.io]

  Grade 2 refers to a patient with spastic gait, able to walk independently with or without support. Grade 3 refers to a chairbound or bedridden patient. [jnnp.bmj.com]

  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]

• Stroke

  […] identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke [books.google.ro]

  The BSE undergoes a large conformational change upon GTP hydrolysis that has been described as the power stroke of dynamin [ 29, 30 ]. [bmcneurol.biomedcentral.com]

  Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan Kunihiro Yoshida Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan Hiroshi Doi Department of Neurology and Stroke [nature.com]

  Focal muscle vibration in the treatment of upper limb spasticity: a pilot randomized controlled trial in patients with chronic stroke. Arch Phys Med Rehabil. 93(9):1656-61. 2012. . Casale R1, Damiani C, Maestri R, Fundarò C, Chimento P, Foti C. [en.wikipedia.org]

  He was a quick player with a decent shooting stroke. Despite his size, he was able to score at a reasonably efficient clip over the course of his career. [bleacherreport.com]

• Hyperactivity

  The diagnosis was made on the basis of a well documented family history and the diagnostic criteria of Harding 1 and Bruyn and Scheltens. 12 Minimal criteria for diagnosis were spasticity of the lower limbs, usually more pronounced than weakness, hyperactive [jnnp.bmj.com]

  Introduction The hereditary spastic paraplegias (HSP) are clinically and genetically heterogeneous disorders characterized by the triad of progressive spastic paraparesis, hyperactive bladder and mild sensory dysfunction in the lower limbs [1] – [4]. [journals.plos.org]

  […] dysfunctions no no dysarthria no no Leg Spasticity Muscle contracture - - - - Muscle weakness (MRC scale): Knee flexion 3.5 2.5 2 2 4 Knee extention 3.5 3 2 2 4.5 Ankle flexion 4 3 1.5 2.5 5 Ankle extention 3.5 3.5 1.5 2 5 Toes 3 3 1 1.5 3 Muscle wasting - - Hyperactive [bmcneurol.biomedcentral.com]

  Primary lateral sclerosis The age of onset for primary lateral sclerosis (PLS) is usually between 40 and 60 years, with spasticity in the legs accompanied by hyperactive deep tendon reflexes, clonus, and Babinski sign. [emedicine.medscape.com]

• Chorea

  Gilbert directs the Movement Disorders and Tourette's Syndrome Clinics, which specialize in evaluation and pharmacologic treatment of tics, chorea, tremor, dystonia, stereotypies, ataxia, and other movement disorders . Dr. [books.google.com]

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]

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]

It brings together nearly the entire spectrum of motor disorders and Neurology into one convenient resource to aid in a comprehensive evaluation, diagnosis, distinction, and treatment of various disorders. [books.google.ro]

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]

Fourteen patients completed screening and treatment. *** Livewell Southwest exceeded their recruitment target of 20 for the PD Safe study all within seven weeks of approval and opening. [researchreadydrive.co.uk]

It is to be noted, however, that vinblastine treatment was associated with small levels of toxicity (Figure 1 and Supplemental Figure 4). [jci.org]

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]

Diagnosis of HSP before the age of 35 leads to a better prognosis compared to diagnosis later in life. Diagnosis after the age of 35 is associated with a more rapid progression of the disease and a greater likelihood of losing the ability to walk. [physio-pedia.com]

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]

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]

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]

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]

Keppen L, Leppert M, O'Connell P (1987) Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 41:933-43. Kobayashi H, Hoffman EP, Marks HG (1994) The rumpshaker mutation in spastic paraplegia. Nature Genet 7:351-2. [med.umich.edu]

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]

Etiology HSP, as the name indicates, is inherited genetically through the individual's parents. HSP, however, is unique to other hereditary disorders as there are multiple mechanisms responsible for this disorder's onset. [physio-pedia.com]

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]

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]

Epidemiology The global prevalence of HSP is difficult to quantify due to the lack of epidemiological studies of acceptable quality and the difficulty of diagnosing HSP, as it overlaps with other neurological diseases [12]. [physio-pedia.com]

An epidemiological and clinical study. Brain. 1991 ; 114 (Pt 2 ): 855 - 66. 3. Hazan, J, Fontaine, B, Bruyn, RP, Lamy, C, van Deutekom, JC, Rime, CS, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. [cambridge.org]

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]

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]

[…] phenotypic heterogeneity might suggest an unstable trinucleotide repeat as the underlying molecular mutation, 28 but further investigations, including molecular genetic studies, will be required to identify the genes responsible of ADPSP to elucidate the pathophysiological [jnnp.bmj.com]

Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia. Journal of Rehabilitation Medicine, 2017;49:369-377. DOI : 10.2340/16501977-2227 Watanabe T. [physio-pedia.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]

The results suggest that inhibited endocytosis is part of the pathophysiological mechanisms leading to HSP in this family. [bmcneurol.biomedcentral.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]

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]

Even though physical therapy does not either prevent or reduce degenerative changes to the person's spinal cord, it is believed that receiving regular therapy can play an important part in assisting people with HSP to maintain and increase their muscle [disabled-world.com]

While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. [aetna.com]

Physiotherapy Management Physiotherapy management for HSP should focus on improving functional ability, managing spasticity, and preventing contracture development [8]. [physio-pedia.com]