Disease Information for Paraplegia, spastic hereditary

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Clinical Manifestations
Signs & Symptoms
Akinetic rigid frozen Posture
Weight loss in Children
Drooling
Bilateral Calf Pains
Hypertonia
Leg cramps/muscle spasm/pains
Muscle spasticity
Muscle stiffness/rigidity
Stiffness
Weak/Weak as a kitten (symptom)
Active reflexes
Ankle reflexes increased
Ataxia
Ataxia/Posterior columns
Babinski's upgoing toes/bilateral
Clumsiness/poor coordination
Equinus Posture/Ankles
Gait disturbance/abnormality
Hyperreflexia/DTRs increased
Intermittant flaccid paralysis
Knee reflexes increased
Leg reflexes increased
Legs increased resistance/passive stretch
Legs increased tone/spastic/hyperreflexic
Mental Deficiency Child
Paralysis
Pyramidal tract signs
Sensory Ataxia
Spasms in Both Legs
Spastic paraplegia/signs
Spasticity/Spastic gait
Staggering Gait
Unable to walk
Acute Back Pain
Back Pain
Backache
Chronic Back Pain
Stiffness lower limb girdle
Urinary incontinence in Children
Urine Incontinence
Balance problems
Enervated/extreme acute fatigue
Falling
Weakness
Vision Loss
Hearing problems
Clinical Presentation & Variations
Presentation/Back pain Hyperreflexia Incontinence
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset childhood/young adult/twenties
Onset/Childhood
Onset/Manifestation/Any age
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Rule Outs
Lathyrism/legume toxicity
Multiple sclerosis
Associated Disease & Complications
Falls/trauma
Kyphoscoliosis
Mental retardation
Paraparesis
Paraplegia
Paraplegia, spastic
Paraplegia, spastic hereditary
Pes cavus/High Arched Foot
Visual acuity loss
Akinetic Rigid Syndrome
Ataxia Disorder
Disease Mechanism & Classification
Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 11q12-q14
Pathophysiology/Gene locus 11q13
Pathophysiology/Gene locus 14q11-q21
Pathophysiology/Gene locus 15q11.1
Pathophysiology/Gene locus 2p22-p21
Pathophysiology/Gene locus chromosome 14
Pathophysiology/Gene locus Chromosome 15
Pathophysiology/Gene locus Chromosome 2
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Corticospinal tract involvement/effect
Pathophysiology/Hereditary Neuropathy
Pathophysiology/Upper motor neuron disorder
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Genetic expressivity variable (ex)
PROCESS/Hereditary dominance/incomplete penetrance (ex).
PROCESS/Hereditofamilial (category)
PROCESS/Two/multiple subsets/disease pattern
Synonyms
Synonym
CHARCOT MARIE TOOTH DISEASE WITH PYRAMIDAL FEATURES AUTOSOMAL DOMINANT, CHARCOT MARIE TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES AUTOSOMAL DOMINANT, CMT WITH PYRAMIDAL FEATURES, congenital paraplegia spastic, familial paralysis spastic, FAMILIAL SPASTIC PARAPLEGIA AUTOSOMAL DOMINANT 1, Familial spastic paraplegia syndrome, FSP1, Hered mtr sen neurop and pyr sgn, Heredit motr sens neuropathy V, Hereditary motor and sensory neuropathy type V, HEREDITARY MOTOR AND SENSORY NEUROPATHY V, Hereditary Motor Sensory Neuropathy with Pyramidal Signs, Hereditary sensory motor neuropathy type 5, Hereditary sensory motor neuropathy type V, Hereditary sensory motor neuropathy type V (disorder), Hereditary spastic paraplegia, Hereditary spastic paraplegia (disorder), Hereditary Spastic Paraplegias, HMSN Type V, HMSN V, HMSN V (Hereditary Motor and Sensory Neuropathy Type V), HMSN5, HSMN V, HSP Heredit spast paraplegia, HSP Hereditary spastic paraplegia, Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia, paralysis familial spastic, paralysis spastic familial, paralysis spastic hereditary, PARALYSIS SPASTIC SPINAL FAMILIAL, Paraplegia Hereditary Spastic, PARAPLEGIA SPASMODIC INFANTILE, PARAPLEGIA SPASTIC CONGENITAL, Paraplegia Spastic Hereditary, Paraplegias Hereditary Spastic, PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES AUTOSOMAL DOMINANT, Spastic congenital paraplegia, spastic paralysis familial, spastic paralysis hereditary, SPASTIC PARAPLEGIA 3 AUTOSOMAL DOMINANT, Spastic Paraplegia Hereditary, Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy, Spastic paraplegia with hypertrophic motor sensory neuropathy type 5, Spastic paraplegia with hypertrophic sensory motor neuropathy type V, Spastic Paraplegias Hereditary, SPG3, SPG3A, STRUMPELL DISEASE, Strumpell Lorrain disease, Strumpell's disease, Type V Hereditary Motor and Sensory Neuropathy, Type V HMSN, Synonym/Complicated hereditary spastic paraplegia/type, Synonym/Familial spastic paraplegia, Synonym/FSP, Synonym/HSP, Synonym/HSP Complicated subtype, Synonym/HSP Uncomplicated subtype, Synonym/Spasmodic infantile paraplegia, Synonym/Spastic congenital paraplegia, Synonym/Spastic spinal familial paralysis, Synonym/Strumpell Disease, Synonym/Strumpell-Lorrain familial spasmodic paraplegia, Synonym/Strumpell-Lorraine syndrome, Synonym/Strumpell's familial paraplegia, Synonym/Uncomplicated hereditary spastic paraplegia/type
Treatment
Drug Therapy - Indication
RX/Dantrolene (Dantrium)
RX/Muscle relaxant medication
Other Treatments
TX/Supportive/Symptomatic treatment
Definition

A group of inherited diseases that share similar phenotypes but are genetically diverse; Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified; Clinically, patients present with slowly progessive distal limb weakness and lower extremity spasticity; Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)--------------

Progressive spasticity of the lower limbs with exaggerated deep tendon reflexes and Babinski sign classified as pure and complicated with brain abnormalities and mental retardation forms which are further subdivided into several categories according to their genetic and clinical characteristics; It is involved in numerous syndromic entities: ---spastic paraplegia 1 (SPG1), X-linked complicated spastic paraplegia (SPPX1) Spastic paraplegia, transmitted as an X-linked trait, with neurological complications involving the cerebellum, cerebral cortex, and optic nerves; Severe mental retardation is a constant feature, ----spastic paraplegia 2 (SPG2) Goldblatt syndrome X-linked uncomplicated spastic paraplegia (SPPX2) Spastic paraplegia, transmitted as an X-linked trait, with nystagmus, optic atrophy, intellectual handicap, and mild ataxia of the upper limbs; ---spastic paraplegia 3 (SPG3) Strumpell disease, Strumpell familial spastic paraplegia Strumpell-Lorrain syndrome, von Strumpell syndrome; A slowly progressive familial disease, transmitted as an autosomal dominant trait, with lower limb spasticity, gait difficulties, and weakness; Neurological changes involve the lateral cortical tracts and fasciculus gracilis; Some patients exhibit ataxia and neurogenic bladder; ----spastic paraplegia 4 (SPG4) An uncomplicated form of SPG2 transmitted as an autosomal dominant trait and marked mainly by progressive spasticity of the lower limbs; ----spastic paraplegia-epilepsy-mental retardation (SPERM) syndrome, A syndrome with incomplete penetrance and variable expressivity with progressive weakness and spasticity of the lower limbs, epilepsy, and mental retardation; spastic paraplegia-sensorineural deafness-mental retardation-progressive nephropathy syndrome; Other more complicated variable inheritance and clinical presentations include: spastic paraplegia-amyotrophy of hands syndrome, Silver syndrome, spastic paraplegia-amyotrophy of hands syndrome,

----Spastic paraplegia associated with extrapyramidal signs --- spastic paraplegia-neuropathy-poikiloderma syndrome ,---- Spastic paraplegia associated with demyelinating peripheral neuropathy, poikiloderma, and loss of eyebrows and eyelashes which is transmitted as an autosomal dominant trait; ---spastic paraplegia-precocious puberty syndrome ----

---spastic paraplegia-optic atrophy-dementia ---- Spastic paraplegia ,transmitted as an autosomal recessive trait, ---------[OMIM/NIH 2005]---------------

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