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]

• Turkish

  In the current study, we report a consanguineous Turkish family with ARHSP inheritance manifesting white matter abnormalities including TCC with relatively late age of onset. [omicsonline.org]

  ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree. [ncbi.nlm.nih.gov]

• Nocturnal Leg Cramp

  She first noticed gait disturbance and spasticity in the lower extremities together with nocturnal leg cramps and pain attacks in the upper limbs at age of 28 years. [omicsonline.org]

• Skin Lesion

  Additional features included hyper-pigmented skin lesions on shoulder and genitals, conspicuous iris pigmentation and obesity with a body mass index above 33. Figure 1: Brain magnetic resonance imaging of individual II3. [omicsonline.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]

• Babinski Sign

  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]

  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]

  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]

• 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]

  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]

  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]

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

  The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals [centogene.com]

• Spastic Gait

  Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet [rarediseases.org]

  Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A [centogene.com]

  Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder. [en.wikipedia.org]

  Keywords Hereditary Spastic Paraplegia Spastic Paraparesis Primary Lateral Sclerosis Spastic Gait Hereditary Spastic Paraparesis These keywords were added by machine and not by the authors. [link.springer.com]

  The overall picture was spastic gait with variable associated distal wasting, sensory neuropathy and cerebellar ataxia ( Table 2 ). [academic.oup.com]

• Clumsiness

  The finger–nose test showed cerebellar clumsiness. The patient also described mild sphincter disturbances. Distal touch/pinprick sensitivity was decreased in the legs, but vibration sense at the ankles was observed. [academic.oup.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]

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]