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]

In conclusion, we report here that SPG7 can present with the predominant cerebellar phenotype masquerading as SCA6 or cortical cerebellar atrophy. [nature.com]

An overlapping phenotypic presentation with its biological counterpart AFG3L2, which when mutated causes spinocerebellar ataxia type 28, is apparent and possibly suggests that abnormal levels of the SPG7 protein impact the function of the mitochondrial [hspersunite.org.au]

• Hoarseness

  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]

• Delayed Dentition

  dentition, and hypomyelination, see Pol III-related leukodystrophy ataxia, fatal X-linked, with deafness and loss of vision, see Arts syndrome ataxia-deafness-optic atrophy, lethal, see Arts syndrome ataxia-hypogonadism-choroidal dystrophy syndrome, [mygenomics.com]

• Vertical Gaze Palsy

  Other disease features encountered in this cohort included cervical dystonia, vertical gaze palsy, ptosis and severe intellectual disability. [hspersunite.org.au]

  gaze palsy is usually a symptom of the latter 3 forms. [elsevier.es]

• Eruptions

  Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. {ECO:0000269 PubMed:20579626}. [genecards.org]

  Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. 2 isoforms of the human protein are produced by alternative splicing. [mybiosource.com]

  Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. [uniprot.org]

• Skin Rash

  If untreated, Holocarboxylase Synthetase Deficiency can cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, movement and balance problems, skin rashes, hair loss, and yeast infections. [natera.com]

• Recurrent Fractures

  Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. {ECO:0000269 PubMed:20579626}. [genecards.org]

  Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. 2 isoforms of the human protein are produced by alternative splicing. [mybiosource.com]

  Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. [uniprot.org]

• Long Arm

  This process is due to mutations in the gene SPG7, located on the long arm of chromosome 16 (16q24.3). This gene encodes the protein paraplegin, a member of the family of AAA proteins. [ivami.com]

  Some people with IAHSP experience a deletion mutation in their ALS2 gene, located on the long arm of chromosome 2 at 2q33.2. HSP can be transmitted as an autosomal dominant, autosomal reseccive, or x-linked recessive trait. [disabled-world.com]

• Stiffness of the Lower Limbs

  He started to complain of a sense of stiffness in the lower limbs at age 55. His gait disturbance gradually worsened, and he became dependent on a cane at age 66. At his latest visit at age 71, his mini-mental state examination score was 29. [nature.com]

• Normal Hearing

  Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. {ECO:0000269 PubMed:20579626}. [genecards.org]

  Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. 2 isoforms of the human protein are produced by alternative splicing. [mybiosource.com]

  Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. [uniprot.org]

• Incontinence

  Some forms are characterised by urinary incontinence or weakness and stiffness in other parts of the body; type 7 is characterised by onset between age 25–40, variably accompanied by cerebellar syndrome, supranuclear palsy and cognitive impairment, with [medical-dictionary.thefreedictionary.com]

  In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. [genecards.org]

  He complained of pollakiuria and urinary incontinence but not of constipation or orthostatic hypotension. There was no evidence of sensory disturbance. His condition was still consistent with cerebellar ataxia associated with urinary disturbance. [nature.com]

  HSP more frequently reported much problems on alternating constipation and diarrhea ( χ 2 (1)   9.163, p χ 2 (1)   11.032, p χ 2 (1)   26.253, p Urinary problems 52 % confirmed urinary incontinence HSP more frequently reported urinary incontinence ( χ [ojrd.biomedcentral.com]

• Hyperreflexia

  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]

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

• Babinski Sign

  Neurological examination at age 52 showed ataxic dysarthria, exaggerated patellar and Achilles tendon reflexes without Babinski signs and lower limb ataxia. His gait was wide-based and staggering. [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 Mini-Mental State Examination [intechopen.com]

• Spastic Gait

  Children with very early onset may have relatively non-progressive spastic gait. 6 yrs, 2 – 50 yrs AD Uncomplicated/ Complicated Atlastin (SPG3A) DNA Sequencing Mainly pure HSP 29 yrs, 0 – 74 yrs AD Uncomplicated/ Complicated Spastin (SPG4) DNA Sequencing [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]

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

  Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus collasum in spastic gait gene 11 (SPG11). Arch Neurol 2004 ; 61 : 117 –21 Ohnishi J, Tomoda Y, Yokoyama K. [ajnr.org]

• 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]

  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]

• Bradykinesia

  الصفحة 190 - Bradykinesia (slowness of initiation of voluntary movement with progressive reduction in speed and amplitude of repetitive actions) • And at least one of the following: muscular rigidity 4—6 Hz rest tremor postural instability not caused [books.google.com]

  He had no involuntary movements, rigidity or bradykinesia. Truncal and limb ataxia appeared exacerbated. He showed a marked staggering and could not walk without holding on to something. [nature.com]

  Only one of five patients with hereditary spastic paraplegia showed clinical indication of extrapyramidal involvement in the form of subtle bradykinesia and slight resting tremor. [intechopen.com]

  Rarely, spastic paraplegia type 15 is associated with a group of movement abnormalities called parkinsonism, which includes tremors, rigidity, and unusually slow movement (bradykinesia). [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]

• Posterior Fossa Cysts

  الصفحة 175 - Revised classification of posterior fossa cysts and cyst-like malformations based on the results of multiplanar MR imaging. ‏ [books.google.com]

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]

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]

[…] 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]

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]

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]

[…] 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]

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]

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]