The AN/SQS-35 fish was later modified to tow an AN/SQR-18A TACTASS passive towed array sonar, a helicopter deck and hangar for operating the DASH drone helicopter was fitted aft. [wikivisually.com]

PWS Testing Strategy: Testing begins with DNA methylation analysis If DNA methylation analysis is abnormal, then proceed to FISH/CMA If FISH/CMA is normal, then proceed to uniparental disomy (UPD) study If UPD is normal, then proceed to imprinting defect [aetna.com]

Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand [ddduk.org]

Related phenotypes are failure to thrive and clonus Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the VPS37A gene on chromosome 8p22. [malacards.org]

[…] to thrive, immunocompetence, family history, and trend toward worsening or improvement. [aetna.com]

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

One clinical study reported that the mean age at first onset of muscle weakness was 41 years and that the most common presenting symptom was muscle cramps, followed by tremors and leg weakness. [31] Also reported was that muscle strength and function [emedicine.medscape.com]

LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. In the early stage of the disease, the clinical aspects of ALS can vary. [aetna.com]

SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. [uniprot.org]

SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. {ECO:0000269 PubMed:22717650}. [genecards.org]

SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. [uniprot.org]

SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. {ECO:0000269 PubMed:22717650}. [genecards.org]

[…] consistent with any of the following: A relative with a known deleterious STK11 (LKB1) gene mutation; or A clinical diagnosis of PJS based on at least 2 of the following features: At least 2 PJS-type hamartomatous polyps of the small intestine; Mucocutaneous hyperpigmentation [aetna.com]

Marinesco-Sjögren syndrome: Marinesco-Sjögren syndrome is a rare disorder with onset in infancy or childhood. Homozygosity mapping in two large consanguineous families of Turkish and Norwegian origin mapped the disease gene on chromosome 5q31[ 45 ]. [wjgnet.com]

Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia AD/AR 48 240 GJC2 Spastic paraplegia, Lymphedema, hereditary, Leukodystrophy, hypomyelinating AD/AR 26 57 HACE1 Spastic paraplegia and psychomotor retardation [blueprintgenetics.com]

[…] type 13 Familial partial lipodystrophy due to AKT2 mutations Hypoinsulinemic hypoglycemia and body hemihypertrophy Pelizaeus-Merzbacher-like due to HSPD1 mutation CADDS Peters anomaly Severe motor and intellectual disabilities-sensorineural deafness-dystonia [csbg.cnb.csic.es]

Pure cerebellar syndrome does occur, although it is more common for patients also to present symptoms secondary to the involvement of other systems, such as intellectual disability, cognitive impairment, epilepsy, movement disorders (dystonia, chorea, [elsevier.es]

[…] who have no affected relative with early onset dystonia. [aetna.com]

[…] beta-glucosidase glucosidase, beta (bile acid) 2 glucosidase, beta, acid 2 glucosylceramidase, nonlysosomal spastic paraplegia 46 (autosomal recessive) GBA2 SPG46 609471 18986 glutamate decarboxylase 1 0 GAD1 GAD 605363 4092 GTP cyclohydrolase 1 dopa-responsive dystonia [ukgtn.nhs.uk]

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 (hyperreflexia [ghr.nlm.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]

Upper limb involvement is relatively uncommon and usually consists of mild hyperreflexia, which may be present early in the disease. A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

All of them started with symptoms consisting of gait difficulties and weakness in the lower extremities, and their neurologic examination showed an upper motor neuron syndrome predominantly in the lower extremities with weakness, spasticity and hyperreflexia [ajnr.org]

The essential clinical findings are slowly progressive and often include severe spasticity, hyperreflexia, and weakness in a pyramidal distribution, noticeably in both lower limbs, with extensor plantar responses. [emedicine.medscape.com]

Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [13] Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling [ipfs.io]

Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [10] Individuals with HSP can experience extreme fatigue associated with central nervous system [en.wikipedia.org]

At the extremes are asymptomatic patients with pyramidal signs in the lower limbs with a normal or only slightly abnormal gait and a few patients who are chairbound or bedridden. 71 94 There is marked variability in the age at onset of symptoms in chromosome [jnnp.bmj.com]

Gait, and Distinctive Facial Features. [ddduk.org]

Related phenotypes are failure to thrive and clonus Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the VPS37A gene on chromosome 8p22. [malacards.org]

Causes List for Clonus List of possible causes of Clonus or similar symptoms may include: 2 Absence epilepsy (myoclonus) Action myoclonus-renal failure syndrome (myoclonus) Action myoclonus-renal failure (myoclonus) Adenylosuccinase deficiency (Myoclonus [familydiagnosis.com]

Primary lateral sclerosis The age of onset for primary lateral sclerosis (PLS) is usually between 40 and 60 years, with spasticity in the legs accompanied by hyperactive deep tendon reflexes, clonus, and Babinski sign. [emedicine.medscape.com]

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

Spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by lower extremity spasticity and weakness. [blueprintgenetics.com]

Given that both of these disorders are treatable, dopa-responsive dystonia should be excluded in a child with progressive gait disturbance and lower-extremity spasticity of unknown etiology, whereas arginase deficiency should be considered in a young [emedicine.medscape.com]