Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem dysraphia, and clinically asymptomatic cerebellar atrophy. [ncbi.nlm.nih.gov]

Paraplegia 32, Autosomal Recessive Summaries for Spastic Paraplegia 32, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 32, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: hyperreflexia difficulty [malacards.org]

HSP clinical syndromes may be limited to difficulty walking due to lower extremity spastic weakness (“uncomplicated HSP”) or may include other neurologic or systemic disturbances (“complicated HSP”). [mhmedical.com]

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

Gene Details Gene Symbol : SPG32 Gene Name : Spastic Paraplegia 32 (autosomal Recessive) Locus : 14q12-q21 FISH Probe Protocols Protocol, Procedure, or Form Name Last Modified Download Scientific Citations There are currently no FISH related citations [empiregenomics.com]

One caveat however: although early childhood-onset forms of HSP may be “non-progressive”, the degree of spasticity may increase slowly if adequate range-of-motion is not maintained through stretching exercises and muscle spasticity reduction. [rarediseases.org]

To date, treatment of HSPs is primarily directed symptomatically towards reducing muscle spasticity. [els.net]

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]

HSP syndromes are classified as “uncomplicated” when symptoms are confined to leg weakness and tightness and urinary urgency. [rarediseases.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]

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gait 32 HP:0002064 7 hypoplasia of the corpus callosum 32 HP:0002079 8 difficulty walking 32 HP:0002355 9 babinski sign 32 HP:0003487 10 lower limb muscle weakness 32 HP:0007340 11 ankle clonus 32 HP:0011448 Drugs & Therapeutics for Spastic Paraplegia [malacards.org]

gait Causes List for Spastic gait List of possible causes of Spastic gait or similar symptoms may include: 2 Amyotrophic Lateral Sclerosis type 2, Juvenile (Spastic gait) Amyotrophic lateral sclerosis type 2 (Spastic gait) Ataxia (Spastic gait) Autosomal [familydiagnosis.com]

Get Update Overview SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. [diseaseinfosearch.org]

Table 134-1 Genetic Types of HSP (updated from Fink JK, 2011) View Table Favorite Table Download (.pdf) Table 134-1 Genetic Types of HSP (updated from Fink JK, 2011) Spastic Gait (SPG) Locus OMIM Number Protein (genetic locus if protein is unknown) Clinical [mhmedical.com]

60 Frequent (79-30%) 18 progressive peripheral neuropathy 60 Frequent (79-30%) 19 cerebral atrophy 33 HP:0002059 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: hyperreflexia difficulty walking cerebellar atrophy lower [malacards.org]

Get Update Overview SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. [diseaseinfosearch.org]

Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages. [thieme-connect.com]

On exam, both have bradykinesia, dystonia, hyperreflexia, increased tone, and spastic/ataxic gait, though sister’s symptoms are less severe. [mdsabstracts.org]

sign 32 HP:0003487 10 lower limb muscle weakness 32 HP:0007340 11 ankle clonus 32 HP:0011448 Drugs & Therapeutics for Spastic Paraplegia 32, Autosomal Recessive Genetic Tests for Spastic Paraplegia 32, Autosomal Recessive Anatomical Context for Spastic [malacards.org]

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]

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]

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]

Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 32, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: hyperreflexia difficulty walking cerebellar atrophy lower limb spasticity ankle clonus [malacards.org]

Neither ankle nor knee clonus was observed. 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]

There was no voluntary movement of either leg, spontaneous clonus was present, planter responses were extensor bilaterally, and sensation was normal. His feet had pes cavus deformity. [jnnp.bmj.com]

He had increased reflexes in all limbs with ankles clonus and bilateral extensor plantar reflexes. There was mild wasting in the upper limbs. He reported having mild urinary urgency and painful legs. Ocular pursuit was saccadic. [academic.oup.com]

HSP clinical syndromes may be limited to difficulty walking due to lower extremity spastic weakness (“uncomplicated HSP”) or may include other neurologic or systemic disturbances (“complicated HSP”). [mhmedical.com]

extremity spasticity and weakness. [flybase.org]

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]

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]