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]

2017/65/5/1141/214102 Sir, A 61-year old gentleman with a history of ataxic gait for the last 40 years presented with further worsening of his gait in the last 4–5 years. He reported multiple falls due to poor balance. [neurologyindia.com]

The sister carrying the R294H variant had an ataxic gait and hand tremor at 3 years, which was not present in her sister. [epilepsygenetics.net]

Hypertrophic cardiomyopathy and diabetes are common presentations of the condition. [elsevier.es]

• Cerebral Palsy

  The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms. [en.wikipedia.org]

  HSP Evaluation Test Menu – Important Factors to Consider Clinical Manifestations Main Clinical Features Test Prevalence Age of Onset/Range Inheritance Classification May resemble spastic diplegic cerebral palsy. [1pdf.net]

  Differential Diagnosis • • • • • • • Childhood onset Diplegic cerebral palsy Structural (Chiari malformation, atlanto-axial subluxation) Leucodystrophy (eg, Krabbe’s) Metabolic (arginase defi ciency, abetalipoproteinaemia) Levodopa-responsive dystonia [slideshare.net]

  HSP can resemble cerebral palsy, however, HSP is degenerative and thereby causes increasing spasticity and weakness of the muscles. [sp-foundationorg.presencehost.net]

• Difficulty Walking

  An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. [icdlist.com]

  The hallmark of HSP is progressive difficulty walking due to increasingly weak and stiff (spastic) muscles. Symptoms appear in most people between the second and fourth decade of life, but they can start at any age. [sp-foundationorg.presencehost.net]

  Balance difficulty, often worse when walking in the dark or on uneven surfaces is not uncommon in individuals with HSP. Tightness in the legs and leg muscle spasm (often at night) are not uncommon. [rarediseases.org]

• Dysphagia

  People with this form of spastic paraplegia may also have hyperreflexia in the arms, dysarthria, dysphagia, nystagmus, mild hearing loss, scoliosis, foot arch elevation, sensory neuropathy, motor neuropathy and amiotrofia. [ivami.com]

  Additional features such as sphincter disturbances, dysphagia, pale optic disks, retinitis pigmentosa, nystagmus, strabismus, decreased hearing, scoliosis, and pes cavus may be observed. [link.springer.com]

  At age 25, his voice became progressively hoarse and strangulated without dysphagia. His parents are first cousins and a paternal uncle has global developmental delay. [mdsabstracts.org]

  People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal [ghr.nlm.nih.gov]

  Clinical features include muscle atrophy and weakness with spasticity (more pronounced in the lower limbs), ataxia, pyramidal signs, dysphagia, and cerebellar dysarthria. Hyperreflexia and extensor plantar responses are often present. [disorders.eyes.arizona.edu]

• Short Arm

  The majority of the families where the link has been established are associated with the SPG4 gene location on the short arm of chromosome 2. The evidence is suggestive that the SPG4 gene regulates production of a protein referred to as, 'spastin.' [disabled-world.com]

• Hyperreflexia

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

  People with this form of spastic paraplegia may also have hyperreflexia in the arms, dysarthria, dysphagia, nystagmus, mild hearing loss, scoliosis, foot arch elevation, sensory neuropathy, motor neuropathy and amiotrofia. [ivami.com]

  Clinical features of the disease include lower limb spasticity and weakness, spastic ataxic gait, hyperreflexia, extensor plantar responses, pyramidal signs, decreased vibratory sense in the lower limbs, degeneration of the lateral corticospinal tracts [link.springer.com]

  Examination revealed normal strength, diffuse hyperreflexia in the arms and legs, bilateral positive Hoffmann’s reflexes, increased spastic tone in the legs with bilateral ankle clonus and upgoing toes. [mdsabstracts.org]

  People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal [ghr.nlm.nih.gov]

• Spastic Gait

  gait) followed consecutively by the locus number assigned in order of discovery—the first locus identified was named SPG1. [1pdf.net]

  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]

  Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol 2004; 61(1):117-121. 24. [siicsalud.com]

• 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]

  Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski’s sign, diminished vibration sense in the feet, muscle spasms, and congenital foot problems such as pes cavus (high arched [sp-foundationorg.presencehost.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]

  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]

  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]

• Lower Extremity Spasticity

  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]

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

  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]

  Diagnosis HSP is diagnosed by the following: 1) typical symptoms (lower extremity spastic weakness that may be non-worsening (early childhood onset) or slowly progressive over many years; 2) findings on neurologic examination (lower extremity hyperreflexia [rarediseases.org]

  Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, corticospinal tract signs, variable hypertonic urinary disturbances, and mild reduction of lower extremity vibration sense and proprioception. [ng.neurology.org]

• Tingling

  They include Numbness Pain Burning or tingling Muscle weakness Sensitivity to touch Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke [medlineplus.gov]

  […] hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal curvature of the spine ( scoliosis ); high-arched feet (pes cavus); numbness, tingling [ghr.nlm.nih.gov]

  People with this form of spastic paraplegia can also experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); intellectual disability; exaggerated reflexes [icdlist.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]

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]

Lifelong treatment with biotin supplementation can prevent the symptoms from occurring. With early diagnosis and treatment with biotin, people with Holocarboxylase Synthetase Deficiency can live healthy lives. [natera.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]

Treatment Treatment Options: Treatment is symptomatic. Physical, speech, and occupational therapy may be helpful in selected patients. Low vision aids may be of benefit in some individuals, at least early in the disease. [disorders.eyes.arizona.edu]

Diagnosis and Prognosis: The diagnosis is usually made by a neurologist. The MRI may show some loss of tissue in certain areas of the brain but this is nondiagnostic. [disorders.eyes.arizona.edu]

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]

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]

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

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]

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]

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]

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

Kubota A, Ishiura H, Mitsui J, Sakuishi K, Iwata A, Yamamoto T, Nishino I, Tsuji S, Shimizu J Internal medicine (Tokyo, Japan) 57(6) 877-882 2017年12月 [査読有り] Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome [researchmap.jp]

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

[…] hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Synonym(s): - COXPD7 Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

SHOWING 1-10 OF 459 REFERENCES The epidemiology of Leber hereditary optic neuropathy [semanticscholar.org]

[…] pure and complicated forms,autosomal recessive,characterized by optic,cortical and cerebellar atrophy,associated with a defect in oxidative phosphorylation,late onset Relevant External Links for SPG7 Genetic Association Database (GAD) SPG7 Human Genome Epidemiology [genecards.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]

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]

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]

No treatments are currently available to prevent, stop, or reverse HSP. [sp-foundationorg.presencehost.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]

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]