They all presented in the first 2 years of life with developmental delay, delayed walking, abnormal gait, and mild to severe mental retardation. They also had spasticity of the lower limbs, and a very thin corpus callosum. [cags.org.ae]

Molecular genetic analysis is the best technique for carrier detection. [ 7 ] Presentation Generally, the clinical picture is one of: [ 2 ] Nystagmus Spastic quadriplegia Ataxia Developmental delay Typically, the disease begins in the first two months [patient.info]

delay, and congenital heart defects Short stature, SHOX-linked Short-rib thoracic dysplasia with or without polydactyly Short-rib thoracic dysplasia with or without polydactyly 01 Short-rib thoracic dysplasia with or without polydactyly 02 Short-rib [moldiag.com]

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 617069 188250 Autosomal recessive TKT 3p21.1 Short stature, developmental delay, and congenital heart defects 617044 606781 Autosomal recessive TLL1 4q32.3 Atrial [mnglabs.com]

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. [ncbi.nlm.nih.gov]

Prognosis Most patients become wheelchair-bound by the 5th decade of life. Death generally occurs during the sixth decade but survival into the seventies has been reported. [orpha.net]

By now, he is wheelchair-bound. 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]

She became wheelchair bound from the age of 43 years. Examination at the age of 63 years showed severe cerebellar ataxia in truncus and extremities. [journals.plos.org]

A characteristic feature of HSP, which has been stressed by several authors, is the marked discrepancy between the often severe spasticity and only mild or absent muscle weakness. 8 14 This is demonstrated by the patient with HSP who is wheelchair bound [jnnp.bmj.com]

The onset of symptoms varies greatly; however, abnormalities in muscle tone and difficulty walking usually become noticeable in adolescence. Many features of spastic paraplegia type 11 are progressive. [ghr.nlm.nih.gov]

Showing of 42 30%-79% of people have these symptoms Abnormality of jaw muscles 0045037 Ankle contracture 0006466 Babinski sign 0003487 Cough Coughing 0012735 Delayed gross motor development Delayed motor skills 0002194 Difficulty walking Difficulty in [rarediseases.info.nih.gov]

The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means severe weakness in both legs including paralysis. [rarediseases.org]

Most patients present with difficulty walking or gait disturbance, noticed either by themselves or a relative. In those with childhood onset, a delay in walking is not uncommon. [jnnp.bmj.com]

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]

They also had symptoms of pseudobulbar palsy including increased jaw and glabellar reflexes and weak cough sound. They had mild-moderate distal pyramidal weakness, with only a flicker of movement at the fingers and forearms noted. [cags.org.ae]

Showing of 42 30%-79% of people have these symptoms Abnormality of jaw muscles 0045037 Ankle contracture 0006466 Babinski sign 0003487 Cough Coughing 0012735 Delayed gross motor development Delayed motor skills 0002194 Difficulty walking Difficulty in [rarediseases.info.nih.gov]

Suctioning and cough assist device Management of Dysphagia Sialorrhea Management Glycopyrrolate (Robunil)- 1-2 mg every 4 hours Benztropine, Amitriptyline Transdermal hyoscine patch Topical atropine drops - 1% every 4 hours Botox or Myobloc injection [slideplayer.com]

廣谷　真、矢部一郎、佐々木秀直 HIV感染症　診断・治療・看護マニュアル　改訂第８版 81-82 2011年 Adult Leigh disease without failure to thrive : a case report and review of the literatures. Sakushima, K., Tsuji-Akimoto, S., Niino, M., Saitoh, S., Yabe, I. [researchmap.jp]

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]

Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [genecards.org]

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]

Long-term observation shows that many patients reach a plateau in symptoms in the patient's early adulthood. 35 36 Genetics Autosomal recesive disorder Mutation of frataxin gene (9q13-q21) Long arm of cromosome 9 Prevalence 1 : Genetic counselling! [slideplayer.com]

cramps 611773 120130 Autosomal dominant COL4A1 13q34 {Hemorrhage, intracerebral, susceptibility to} 614519 120130 COL4A1 13q34 Porencephaly 1 175780 120130 Autosomal dominant COL4A1 13q34 Brain small vessel disease with or without ocular anomalies 607595 [mnglabs.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]

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. [genecards.org]

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]

He had symptoms of a neurogenic bladder, without incontinence. Electroencephalography (EEG), electromyography (EMG) and nerve conduction velocities (NCV) were normal. [journals.plos.org]

SPG48 Two siblings in the one French family have pure adult-onset spastic paraplegia and urinary incontinence with hyperintensity of the cervical spinal cord (C3-4,7) in one sibling as the only distinguishing magnetic resonance imaging (MRI) feature [ [intechopen.com]

People with this condition can also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. [ghr.nlm.nih.gov]

[…] 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]

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]

There is gross spasticity, hyperreflexia and extensor plantar response. In severe cases, the child is unable to sit unsupported and is certainly unable to walk. [patient.info]

There is nystagmus and weakness, followed by development of ataxia, cognitive delay and spasticity. [patient.info]

Other early signs of cerebellar ataxia include dysarthria and nystagmus. The spasticity is progressive and eventually dominates the clinical picture. The pyramidal syndrome is characterised by brisk patellar tendon reflexes and the Babinski sign. [orpha.net]

People with the complex form of spastic paraplegia type 2 have lower limb spasticity and can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); mild intellectual disability; involuntary, rhythmic [ghr.nlm.nih.gov]

Spastic paraplegia, variably associated with cognitive decline, thin corpus callosum, upper extremity weakness, dysarthria and nystagmus 1% ADHSP† 8% ADHSP† 5% ARHSP† Mutation frequency of 7.7% in pure recessive cases and 6.6% in complex forms6 Spastizin [1pdf.net]

The pyramidal syndrome is characterised by brisk patellar tendon reflexes and the Babinski sign. [orpha.net]

Showing of 42 30%-79% of people have these symptoms Abnormality of jaw muscles 0045037 Ankle contracture 0006466 Babinski sign 0003487 Cough Coughing 0012735 Delayed gross motor development Delayed motor skills 0002194 Difficulty walking Difficulty in [rarediseases.info.nih.gov]

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]

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]

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]

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]

The uncomplicated or pure form presents with lower limb weakness and spasticity, and is predominantly characterized by an autosomal dominant inheritance pattern. [mayomedicallaboratories.com]

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]

weakness Muscle weakness in lower limbs [ more ] 0007340 Pes cavus High-arched foot 0001761 Progressive Worsens with time 0003676 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Slow progression Signs and symptoms worsen slowly [rarediseases.info.nih.gov]

The later are associated with a variety of other neurological and systemic abnormalities, whereas the former essentially present with lower limb weakness and spasticity. [scielo.br]