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]

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]

Genetic Testing - Skeletal dysplasia Eiken (Eiken skeletal dysplasia -EISD-) - Gen PTH1R. Genetic Testing - Skeletal dysplasia related CHST3 (CHST3-related skeletal dysplasia) - Gen CHST3. [ivami.com]

Dysplasias Screening of the 48 most frequent mutations in the FGFR3, COL2A1, CRTAP, P3H, SLC26A2 and SOX9 genes Skeletal Dysplasias Supplement study prenatal array Skeletal Dysplasias Cell culture of amniotic fluid and screening of the 50 most frequent [pentacorelab.hu]

Dysplasia Torrance Type 2 Pleuropulmonary Blastoma 1 Pneumothorax, Primary Spontaneous 1 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 1 Polycyctic Kidney Disease 3 3 Polycystic Kidney Disease 1 4 Polycystic [preventiongenetics.com]

[…] paraplegia type 63 Autosomal recessive spastic paraplegia type 64 Bedouin spastic ataxia syndrome Choreoathetosis Circumscribed palmoplantar keratoderma Complicated hereditary spastic paraplegia Congenital atrophy of optic nerve Congenital keratoderma Fryns macrocephaly [icdlist.com]

Alopecia, Cutis Laxa, And Scoliosis 3 Macrocephaly/Autism Syndrome 3 Macrothrombocytopenia And Progressive Sensorineural Deafness 2 Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related 2 Macular Corneal Dystrophy Type I 2 Macular Degeneration, Age-Related [preventiongenetics.com]

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]

2001 ) 14q22–q24 Complex 13-23 Yes – Intellectual deterioration, pigmented macula, CC and brainstem atrophy SPG20 ( Patel et al ., 2002 ) 13q12.3 Spartin Complex Early childhood Yes – Mental retardation, shortness of stature SPG21 ( Simpson et al . [academic.oup.com]

This condition results from the breakdown (degeneration) of tissue at the back of the eye called the macula, which is responsible for sharp central vision. [ghr.nlm.nih.gov]

Hunter-Thompson type ACTH-independent macronodular adrenal hyperplasia 1 ACTH-independent macronodular adrenal hyperplasia 2 Acute myeloid leukemia Adult hypophosphatasia Adult type lactose intolerance Afibrinogenemia Agammaglobulinemia, X-linked Age-related macula [moldiag.com]

This condition results from the breakdown (degeneration) of tissue at the back of the eye called the macula, which is responsible for sharp central vision.Most people with spastic paraplegia type 15 experience a decline in intellectual ability and an [icdlist.com]

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]

2005 ) 12p11.1–12q14 – Complex 22–42 No Yes Emotional lability, tongue tremor, mild intellectual impairment SPG27 ( Meijer et al ., 2004 ; Ribai et al ., 2006 ) 10–q22.1–q24.1 – Pure, complex 2–45 Yes Yes Mental retardation, microcephaly, facial dysmorphia [academic.oup.com]

Medications such as oxybutynin may reduce urinary urgency. If urinary urgency is severe or accompanied by difficulty initiating urination, consultation with a urologist is recommended. [rarediseases.org]

He also complains about urinary urgency. Mental retardation as illustrated by learning difficulties can be assumed but not confirmed due to the illiterate condition and the language problems of the patient. [omicsonline.org]

He reported having mild urinary urgency and painful legs. Ocular pursuit was saccadic. Discussion We mapped a novel ARHSP locus (SPG30) on chromosome 2q37.3 in a consanguineous Algerian family living in Eastern France. [academic.oup.com]

Urinary urgency can be alleviated with anticholinergic drugs 52. As the disease progresses patients should be evaluated for the appropriate assistive walking devices such as walkers and wheelchairs. [scielo.br]

Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy. [link.springer.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]

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

[…] 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]

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]

Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. [icd10data.com]

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]

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]

sign 34 Clinical presentation Symptoms typically begin sometime between the ages of 5 to 15 years, scoliosis Diabetes (about 20% of people with Friedreich's ataxia develop carbohydrate intolerance and 10% develop diabetes mellitus) Heart disorders (e.g [slideplayer.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]

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]

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]

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

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

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]

Recent studies have shown, however, that mild cerebellar signs and/or cerebellar atrophy on brain imaging are almost constant in SPG7 ( Elleuch et al ., 2006 ). [academic.oup.com]

The clinical overlap between MJD and complicated HSP is extensive since both entities can present spastic paraparesis, extrapyramidal dysfunction, amyotrophy, dementia, ataxia and cerebellar signs, and peripheral neuropathy 9,10. [scielo.br]

Patients with cerebellar signs were screened for mutations in FXN, SACS, and the common spinocerebellar ataxias (SCAs 1–8) prior to being included in the study. The complete data collection form is available as appendix e-1 at Neurology.org/ng. [ng.neurology.org]

There were subtle cerebellar signs in the upper limbs and mild cerebellar dysarthria. Ophthalmological examination showed normal retinal and macular findings, but visual acuity was 0.3–0.5. [journals.plos.org]

Kompoliti’s include the gender differences in Parkinson’s disease and other movement disorders, studies to define the effect of neuroleptics on weight, risk for diabetes and dyslipidemia in patients with Tourette syndrome, and define the current status [books.google.de]

[…] degeneration Early-onset obesity EAST syndrome Ehlers-Danlos syndrome due to tenascin-X deficiency Eiken syndrome Emberger syndrome Endocytotic disturbances of proximal tubular function Eosinophil peroxidase deficiency Epidermolysis bullosa Epigenetic dyslipidemia [moldiag.com]

[…] gene by MLPA Duchenne-Becker Muscular Dystrophy NGS and Sanger sequencing of DMD gene Dyggve-Melchior-Clausen disease Sanger Sequencing of the DYM gene Dyskeratosis congenita NGS of 9 gene panel: ACD, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2 Dyslipidemia [pentacorelab.hu]