Machado-Joseph presenting as severe asymmetric proximal neuropathy. J Neurol Neurosurg Psychiatry 1997;63:534-536. [ Links ] 10. Dürr A, Stevanin G, Cancel G, et al. [scielo.br]

She is board certified in Neurology (1997-present) and is a member of the American Academy of Neurology, the American Neurological Association and the Movement Disorder Society. [books.google.de]

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]

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

• Ankylosis

  Simpson-Golabi-Behmel syndrome 2 Sitosterolemia Smith-Lemli-Opitz syndrome Somatic erythrocytosis Somatic nephroblastoma Sotos syndrome 1 Spastic paraplegia 17 with amyotrophy of hands and feet Specific disturbances of proximal tubular transport Stapes ankylosis [moldiag.com]

  Radio-ulnar synostosis with amegakaryocytic thrombocytopenia, Stapes ankylosis with broad thumb and toes, Next Generation Sequencing of 6 gene panel: FGF9, FLNB, GDF5, HOXA11, NOG, TTR. [pentacorelab.hu]

  Type 1 Spondylometaepiphyseal Dysplasia Short Limb-Hand Type 2 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 2 Spondylometaphyseal Dysplasia, Kozlowski Type 1 Spondyloperipheral Dysplasia 3 Spongy Degeneration Of Central Nervous System 1 Stapes Ankylosis [preventiongenetics.com]

• Muscle Spasm

  Tightness in the legs and leg muscle spasm (often at night) are not uncommon. The consequences of abnormal walking pattern cause strain on the ankles, knees, hips, and back and often cause pain in these areas. [rarediseases.org]

• Hyperreflexia

  People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. [icdlist.com]

  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]

  […] 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]

  People with this form of spastic paraplegia can have numbness, tingling, or pain in the arms and legs (sensory neuropathy); impairment of the nerves used for muscle movement (motor neuropathy); exaggerated reflexes (hyperreflexia) of the lower limbs; [ghr.nlm.nih.gov]

  Possibly affected members were asymptomatic at risk persons with a questionably abnormal neurological examination (mild hyperreflexia, a few beats of unsustained ankle clonus, and flexor plantar responses). [jnnp.bmj.com]

• Paresis

  1-10 in 100,000 people worldwide have HSP  Can affect people of all ages, but average age at onset is 24 4. 1 2 3 4 • Hereditary spastic paresis • Familial spastic paraplegia • Strumpell-Lorrain disease: first described 1883-1888 • French Settlement [slideshare.net]

  Keratoderma with mental retardation and spastic paraplegia Macular corneal dystrophy Paresis of lower extremity Parkinsonism due to hereditary spastic paraplegia Paroxysmal choreoathetosis Paroxysmal dystonia Paroxysmal dystonic choreoathetosis with [icdlist.com]

  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]

  Antiparetic and antispastic effects induced by tizanidine in patients with spastic paresis. Journal of the Neurological Sciences. 1982;53(2):187-204. ^ Bes A, Eyssette M, Pierrot-Deseilligny E, Rohmer F, Warter JM. [en.wikipedia.org]

  Bjorkhem, Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. J Lipid Res, 2010. 51(4): p. 819-23. Schlipf, N.A., C. Beetz, R. Schule, G. Stevanin, A.K. Erichsen, S. Forlani, C. Zaros, K. Karle, S. [hih-tuebingen.de]

• Lower Extremity Spasticity

  Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness. [asperbio.com]

  Clinical Features  Symptoms depend on the type of HSP inherited  Main feature >>> progressive spasticity in the lower limbs, due to pyramidal tract dysfunction  In the lower extremities, spasticity is increased at the hamstrings, quadriceps and ankles [slideshare.net]

  Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. [icd10data.com]

  […] to slowly progressive lower extremity spasticity and weakness. [research.unipd.it]

  All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness. [invitae.com]

• Babinski Sign

  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]

  […] may overcome all of the UMN signs Brainstem damage signs disphagia disarthrie sialorrhea (reduction of swallowing) laringospasm Lately in the course of disease oculomotor problems 45 Criteriile El Escorial revăzute pentru diagnosticul sclerozei laterale [slideplayer.com]

  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 − − [intechopen.com]

  In pure forms, clinical features consist of isolated pyramidal signs, such as brisk reflexes, Babinski sign, spasticity and motor deficit, which can be associated with sphincter disturbances and deep sensory loss. [academic.oup.com]

• Aphasia

  […] bilateral Polysyndactyly, unilateral Postaxial polydactyly type A, bilateral Postaxial polydactyly type A, unilateral Postaxial polydactyly type B, bilateral Postaxial polydactyly type B, unilateral Primary hyperoxaluria type 1 Progressive non-fluent aphasia [csbg.cnb.csic.es]

  Affected individuals have quadriplegia, motor aphasia, reduced vision, mild mental retardation, and sphincter disturbance. [27] Preliminary genotype-phenotype correlations With the identification of HSP loci on chromosome X and 2p, 8q, 14q, 15q, and 16q [emedicine.medscape.com]

  SPG16 Gene unknown Xq11.2 unknown Pure or complicated: aphasia, mental retardation, impaired vision. [scielo.br]

  A comparably rapid progression with predominant learning difficulties at onset, followed by severe spastic paraplegia with distal amyotrophy, hallucinations in adolescence, aphasia, obesity, and fecal and urinary incontinence, was recently described in [nature.com]

  Genetic Testing - Epilepsy-aphasia spectrum ..., (Epilepsy-aphasia spectrum) - Gen GRIN2A. Genetic Testing - epilepsy with febrile seizures generalized (Generalized epilepsy febrile seizures With) - Gen GABRG2. [ivami.com]

While this adds considerable challenges in the diagnostic workup, certain specific complicating features may guide the differential diagnosis between the different HSPs. [scielo.br]

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]

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]

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]

In 2010, Bassetto et al. proposed the surgical treatment of a case of a fourth to fifth cross-finger flap on the dorsum of the digit 6. [rbcp.org.br]

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: 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]

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

[…] 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]

Lp(a) lipoprotein and plasminogen activity in patients with different etiology of ischemic stroke. Cerebrovasc Dis 2007; 23: 1 88-93. [neurologie-kiel.uk-sh.de]

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]

In addition to clearly familial cases, a significant proportion of patients with sporadic spastic paraplegia also have a genetic etiology. [scielo.br]

MtDNA defects of either primary or secondary etiology are known to segregate predominantly in clinically affected tissues. [journals.plos.org]

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

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]

Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology 2013;41:118-130. [ Links ]. Vanacore N, Bonifati V, Fabbrini G, et al. Epidemiology of multiple system atrophy. [scielo.br]

Spinocerebellar degenerations in Japan: a nationwide epidemiological study. Acta Neurol Scand 1994 ; 153 (suppl): 1 –22. ↵ Leone M, Bottachi E, D'Allesandro G, et al. [jnnp.bmj.com]

The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al. [rarediseases.org]

Postherpetic neuralgia: epidemiology, pathophysiology and management. Future Drugs, 2007, 7(11): 1581 -95. [neurologie-kiel.uk-sh.de]

Pathophysiology HSPs are characterized by retrograde degeneration of the longest neurons of the spinal cord, the corticospinal tract and the posterior columns 35. [scielo.br]

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]

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

The treatment of Vohwinkel syndrome aims to alleviate the keratoderma and prevent digital self-amputation. The surgical release of the constrictive rings can be used to prevent self-amputation, the most disabling complication of the disease 3. [rbcp.org.br]

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]

Prevention and Treatment of postherpetic neuralgia; Aging Health, April 2007 (3), 2; 223-230. Maihofner C, Baron R, Decol R, Binder A, Birklein F, Deuschl G, Handwerker HO, Schattschneider J. [neurologie-kiel.uk-sh.de]

Diagnosis is also warranted to prevent patients from been submitted to unnecessary diagnostic tests. Patients with pure HSP mostly have a normal life-spam. [scielo.br]