Disease #07233 (paraplegia (paraplegia))

Official abbreviation paraplegia
Name paraplegia
OMIM ID -
Inheritance -
Individuals reported having this disease 52
Phenotype entries for this disease 52
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2026-03-03 14:58:47 +01:00 (CET)
Date last edited N/A


Individuals

52 entries on 1 page. Showing entries 1 - 52.
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00472905 Fam9304Pat2 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia onset 21y with lower limb weakness; Abnormal gait, ataxic & spastic; Dysarthria; Spastic paraparesis. - KIF1A, SPG7 2 1 Johan den Dunnen
00472980 Fam9713290Pat77 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - paraplegia Myopia; Amblyopia; Ataxia; Mild atrophy of thenar & hypothenar muscles; Lower limb spasticity & weakness; Borderline learning disability; Urinary urgency; Tip-toe walking; Spastic gait; Dysarthria; Brain MRI: bilateral periventricular cerebral white matter disease, severe thinning of genu and major ant body of corpus callosum, atrophy; EMG-NCV:R/O familial spastic paraparesia. - SPG11 2 1 Johan den Dunnen
00473019 Fam5141Pat126 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - paraplegia Abnormal gait since 5y, Spastic gait; Ataxia; Myopia; Pyramidal sign; Mild pes cavus; Lower limb spasticity & weakness; Increased DTR; Brain MRI: suggestive of cortical and white matter atrophy. - KIAA0226 1 1 Johan den Dunnen
00473021 Fam5509Pat129 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - paraplegia onset 21y, Muscle weakness, lower>upper limbs; Urinary incontinence; Ataxia; Spasticity; Spastic gait. - TARDBP 1 1 Johan den Dunnen
00473040 Fam9738Pat151 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - paraplegia onset 15y with Ataxia & Dysarthria; Difficulty walking; Quadriplegia (Quadriparesis); Loss of ambulation 16y, Decreased muscle mass; Spasticity; Seizures; Dysphagia; Lower limbs stiffness; Mental regression & progressive dementia; Progressive neuropathy; Pes cavus, bilateral; Claw toes; Thoracolumbar spine MRI: mild thoracic cord atrophic changes; EMG-NCV: UMN lesion which involves lower limbs. - C19orf12 1 1 Johan den Dunnen
00473059 Fam12618Pat173 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - paraplegia onset 5y with gait abnormality & lower muscle weakness; Flat feet; Spastic gait. - PCYT2 1 1 Johan den Dunnen
00473074 Fam14840Pat194 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia onset 12y, Seizures; Generalized tremor, hand, face; Progressive myoclonus epilepsy; Prominent & abnormal ears; Thin lips; Spasticity in lower limbs; Spastic gait; Muscle pain; Facial asymmetry; Hx of transient stuttering; Elevated level of CPK & LDH; EMG-NCV suggestive of diffuse motor neuron involvement with minimal active denervation; Moderate abnormal EEG. - DYNC1H1 1 1 Johan den Dunnen
00473089 Fam16146Pat210 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia Psychomotor delay; Mild mental retardation; Seizures; Hirschsprung; Speech delay; Delayed walking; Prominent forehead; Micrognathia; Low set ears, mild; Nystagmus; Myopia; Small & short nose; Depressed nasal bridge; Full cheeks; Polydactyly, postaxial, hands; Polydactyly, Lt. foot;. R/O Acrocallosal syndrome or Greig Cephalopolysyndactyly syndrome. - MYO18B 1 1 Johan den Dunnen
00473104 Fam17495Pat227 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - paraplegia onset 1y, Foot drop; Frequent fallings; Spastic gait; Lower limb spasticity & weakness; Urinary urgency; Brain MRI: mildly thin corpus callosum. - REEP2 1 1 Johan den Dunnen
00473131 Fam101086Pat265 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - paraplegia onset 50y with hypoaesthesia & numbness; Progressive muscle weakness, lower>upper limbs; Muscle cramps; Frequent falls; Limbs spasticity, lower>upper; Abnormal gait, spastic; Imbalance; Dysphagia; Mild scoliosis; Coronary artery stenosis; Brain MRI: Encephalomalacia with surrounding gliosis in Rt. parietal lobe; EMG-NCV: suggestive of active motor neuron disease. - NEK1 1 1 Johan den Dunnen
00473153 Fam103148Pat299 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - paraplegia onset 25y, consanguineous parents ,spastic gait, upper and lower muscle weakness, mild lower muscle atrophy, mild pes cavus, normal EMG/NCV with mild neurogenic process, normal CPK, normal cervical, thoracic MRI - ANO10 1 1 Johan den Dunnen
00473174 Fam105087Pat329 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - paraplegia parents onset 8y , frequent falling, climbing difficulty, spastic gait, proximal upper and lower muscle weakness, hyperreflexia (increased DTR), neurogenic changes reported in EMG/NCV, normal brain MRI and normal CPK. - CYP7B1 1 1 Johan den Dunnen
00473189 Fam107046Pat362 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia Delayed motor milestones; Hypotonia; Speech problem due to unilateral hearing loss; Flat occiput; Long nose; Facial weakness, mild; Strabismus & Amblyopia; Ataxia; Neuropathy, feet; Spastic gait; Flat feet; Brain MRI: cerebellar malformation; Elevated LFT; EMG-NCV: chronic focal distal motor neuropathy/neuronopathy restricted to upper limbs. - POLG 1 1 Johan den Dunnen
00473199 Fam108113Pat379 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, 2 affected sibs, family history M yes Iran - - - - - paraplegia two affected siblings, age 42y , spastic gait started 3y earlier, progressive spastic paraplegia dysarthria, unbalanced gait and normal EMG/NCV. - ATP13A2 1 1 Johan den Dunnen
00473205 Fam108540Pat387 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - paraplegia Developmental delay; Speech delay; Mild mental retardation; Delayed walking; Difficulty climbing steps & rising from seated position; Generalized hypotonia; Early fatiguability of the musculature; Brain MRIs: suggestive of metabolic disease, ADEM disease, Demyelinating disease or Multiple sclerosis; EMG-NCV: suggestive of upper motor neuron lesions (transvers myelitis); Elevated CPK & Aldolase; Increased prolactin. - SPG11 1 1 Johan den Dunnen
00473248 Fam112553Pat452 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - paraplegia Delayed speech; Hypertelorism; Upper limb muscle weakness; Spasticity; Difficulty rising from seated position; Gait disturbance; Waddling gait; Pes planus, bilateral; Short stature; FTT; EMG-NCV: chronic neurogenic changes, lower>upper limbs with mild spontaneous activity in some examined muscles in favor of chronic anterior horn cell damages, additionally, hereditary spastic paraparesis & other hereditary disorder such as myopathy are in DDx. - SPG11 1 1 Johan den Dunnen
00473251 Fam112776Pat455 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, 2 affected sibs, family history F yes Iran - - - - - paraplegia two affected siblings, onset 11y , spastic gait , frequent falling, lower limb spasticity and weakness,pes cavus, dysarthria, shortening achill tendon (releasing in age 13y ) chronic neurogenic changes in lower limb with possible mild anterior horn cell disease reported in EMG/NCV ,brain MRI normal( mild asymmetric right ventricle dilation as a normal variation),normal report of MR spectroscopy , normal cervical and thoricic MRI. - C19orf12 1 1 Johan den Dunnen
00473253 Fam113247Pat463 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia sporadic case, mild motor delay, movement impairment started at age t 13y , climbing and standing difficulty, spastic gait, seizure, learning impairement, mild intellectual disability, bilateral shortening Aschilles tendons (released by surgery ), mild brain atrophy and mild periventricular hyper signal reported in brain MRI, neurogenic pattern in favor of anterior horn disease reported in NCV, normal WBC count (normal neutrophil 43%). - ZFYVE26 1 1 Johan den Dunnen
00473262 Fam113542Pat475 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - paraplegia Achilles tendon contracture; Cerebral palsy, diplegic; Spastic paraparesis; Elevated alkaline phosphatase; Unremarkable Brain MRI. - SACS 1 1 Johan den Dunnen
00473302 Fam202692Pat540 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - paraplegia onset threey earlier with spastic gait, lower limb weakness and spasticity, dysarthria, pes cavus, neurogenic pattern with motor neuron disease reported in EMG/NCV - SPG11 1 1 Johan den Dunnen
00473333 Fam204650Pat582 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia psychomotor delay, spastic gait , pes cavus, bulbar dysfunction, lower muscle spasticity , cramp and mild weakness , foot drop , running difficulty, normal CPK and normal EMG. - ZFYVE26 1 1 Johan den Dunnen
00473340 Fam205253Pat594 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia spastic gait, foot drop, corpus callosum hypoplasia, lower limb spasticity, mild muscle weakness, increased DTR, mild cognitive deficit and chronic inactive anterior horn cell disorder reported in EMG/NCV - ZFYVE26 1 1 Johan den Dunnen
00473351 Fam206100Pat615 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - paraplegia onset 8y, gait abnormality, unbalanced gait, lower muscle weakness, and spastic paraparesis and normal brain MRI. - SPG7 1 1 Johan den Dunnen
00473355 Fam206276Pat621 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia onset 7y, spastic gait, frequent falling, increased DTR, spastic paraplegia, frontotemporal mild cortical atrophy, diffuse cerebellar atrophy and thinning of corpus callosum reported in brain MRI - SPG21 1 1 Johan den Dunnen
00473359 Fam206565Pat628 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia muscle weakness and atrophy, bulbar dysfunction, dysarthria, spastic gait, pes cavus, cerebellar sign, increased DTR, chronic L5-S1 motor neuropathy reported in EMG and normal brain MRI - GBA2 1 1 Johan den Dunnen
00473385 Fam207841Pat669 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - paraplegia spastic gait, pes planus, increased DTR, proximal muscle weakness, dysarthria, mild paranchymal brain atrophy. - SPG11 1 1 Johan den Dunnen
00473389 Fam207900Pat674 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia started 6y with foot drop, distal muscle weakness , spastic gait, foot drop, muscle cramps, paraplegia, fasciculation, peripheral neuropathy and plexopathy - SLC33A1 1 1 Johan den Dunnen
00473405 Fam208581Pat695 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia Lower & upper limbs spasticity, since 10y, Abnormal gait; Foot dorsiflexor weakness; Increased DTR in upper/lower limbs. - SYNE1 1 1 Johan den Dunnen
00473428 Fam210087Pat736 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - paraplegia multiple affected siblings ,started 10y with gait abnormality, spastic gait, distal muscle weakness, pes cavus, impaierd heel-toe walking, hearing impairment since 44y , abnormal ABR and cental lesion suggested in EDX - SPG7 1 1 Johan den Dunnen
00473433 Fam210455Pat744 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - paraplegia Sporadic case, onset 8y, spastic gait, foot drop, hypereflexia, heel walking inability , bilateral C7radiculopathy reported in EDX, normal brain MRI - SPAST 1 1 Johan den Dunnen
00473439 Fam210924Pat751 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - paraplegia Started 7y with lower limb spasticity and wakness , ataxic gait, spasticity, dysarthria, dysphagia, hyperreflexia, assistance walking , elevated CPK, neurogenic pattern reported in EDX. - SPG11 1 1 Johan den Dunnen
00473446 Fam211189Pat761 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - paraplegia started 46y old, spatic gait,lower muscle weakness, frequent falling, no evidence of neuropathy reported in EDX, normal brain MRI - CAPN3 1 1 Johan den Dunnen
00473447 Fam211255Pat762 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - paraplegia started 8y, gait abnormality ,dysphagia, lower limb spasticity, toe-heel walking inability, hyperreflexia, normal brain MRI, spondylosis in EMG - SPAST 1 1 Johan den Dunnen
00473448 Fam211441Pat765 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - paraplegia sporadic case, started 3y with progressive spasticity , spastic gait, asymmetric hypereflexia, gait abnormality, motor neuron disease reported in EDX, periventricular white matter hyperintensities in a symmetric pattern - SPG11 1 1 Johan den Dunnen
00473456 Fam212171Pat782 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia sporadic case, age 42y , started 37y with spastic paraparesia, walking difficulty, hyperreflexia, toe- heel walking inability, gait abnormality, EDX is compatible with bilateral mild CTS with no evidence of myopathy or neuropathy process, normal CPK and history of hereditary colorectal cancer (Lynch syndrome) - SPG7 1 1 Johan den Dunnen
00473480 Fam301231Pat831 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia onset 2-month; Neurodevelopmental delay; Mental retardation; Long face; Long forehead; Nystagmus; Prominent jaw; Open mouth; Protruding tongue; Flexed elbows & knees; Paraplegia. - AMPD2 1 1 Johan den Dunnen
00473500 Fam302571Pat861 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia Sporadic case, age 31y old, started 11 months ago with gait abnormality, spastic gait, dysarthria, hyperreflexia, normal CPK and chronic anterior horn cell damage reported in EDX. - SPG11 1 1 Johan den Dunnen
00473568 Fam9319851Pat954 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - paraplegia onset 1y, Developmental regression; Mental retardation, mod; Low set ears; Large mouth; Increased DTR and Tone; Spastic Paraplegia; Congenital hip dislocation; Spasticity; Exercise-induced dystonia; Brain MRI: subtle delayed myelination process. - CYP2U1 2 1 Johan den Dunnen
00473570 Fam9400503Pat958 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - paraplegia Developmental delay, Speech impairment, Mental retardation, Seizures, Abnormal gait, Lower limb spasticity, Upper limb spasticity, mild - ERLIN2 1 1 Johan den Dunnen
00473584 Fam9407532Pat974 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F no Iran - - - - - paraplegia Muscle atrophy; Spastic gait; Dysarthria; Cognitive deficits; Tremor; Lower limb spasticity; Hyperreflexia; Motor neuropathy; Thin corpus callosum - SPG11 1 1 Johan den Dunnen
00473594 Fam9411050Pat985 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M no Iran - - - - - paraplegia Lower limb weakness; Spastic gait; Hyperreflexia; Seizure; Dysarthria; Oculomotor apraxia; Wheelchairbound - SPAST 1 1 Johan den Dunnen
00473621 Fam9417514Pat1023 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - paraplegia Walking on tiptoes; wheelchair-bound from 2y; Hyperlordosis; Joint contractures, upper and lower limbs; Speech difficulty; Spasticity of lower limbs - ALS2 1 1 Johan den Dunnen
00473639 Fam9503820Pat1047 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - paraplegia Spasticity of lower limbs, moderate, non progressive; Spastic gait; Knee hyperreflexia; Babinski upward - ATL1 1 1 Johan den Dunnen
00473669 Fam9510387Pat1087 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia Tip-toe gait; Frequent falls; Difficulty climbing stairs and rising from seated position; Lordosis; Increased DTR; Flat feet; Waddling gait and Nasolacrimal duct obstruction, unilateral - ERLIN1 1 1 Johan den Dunnen
00473718 Fam9603738Pat1155 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - paraplegia Lower limbs muscle weakness, stiffness and cramp; Spastic paraparesis, lower limbs. Brain MRI showed thinning of the corpus callosum - SPG11 1 1 Johan den Dunnen
00473730 Fam9606027Pat1170 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - paraplegia Spastic paraplegia; Muscle weakness & mild wasting in lower limbs; Flat feet; Lumbosacral spine MRI: mild levo scoliosis - ALS2 1 1 Johan den Dunnen
00473750 Fam9609344Pat1200 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia Difficulty walking, progressive; Lordosis in Lumbar MRI - FA2H 1 1 Johan den Dunnen
00473807 Fam9703763Pat1278 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - paraplegia Lower limb spasticity; Lower limb weakness; Mild pes cavus; Spastic gait; Muscle spasm; Brain MRI: suggestive of diffused axonal injury and mild atrophic changes in corpus callosum. - ZFYVE26 1 1 Johan den Dunnen
00473835 Fam9710024Pat1319 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - paraplegia Muscle weakness and mild wasting, legs>arms; Difficulty running and climbing steps; Ataxia; Spastic paraparesis; Hyperlaxity in joints; Cortical agenesia; Agenesis of the corpus callosum; Dysarthria; Lordosis; Flat feet; Speech problem; Seizure, once; Flat face; Upturned nose; Short nasal bridge; Full lips; Prognathia; Foot drop; EMG-NCV: normal; Brain MRI: ischemic hypoxic changes with mild degree of brain volume loss. - SPG11 1 1 Johan den Dunnen
00473838 Fam9710797Pat1324 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - paraplegia Frequent fallings; Lower limbs muscle atrophy and weakness; Neuropathy; Spastic gait; Hyperreflexia; Pes cavus. - BSCL2 1 1 Johan den Dunnen
00473875 Fam9806059Pat1380 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia onset 17y, Spastic gait; Lower limbs weakness & spasticity; Scoliosis; Mild muscle atrophy in lower limbs; EMG-NCV: mild axonal degeneration in lower limbs motor nerves secondary to transverse myelitis; IDDM since 6y old. - VCP 1 1 Johan den Dunnen
00473895 Fam9810026Pat1406 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - paraplegia onset:18y with muscle spasm in legs; Lower limb spasticity; Paraparesis in lower limb; Spastic gait; Ataxia, mild; EMG-NCV: not sig. finding; Abnormal bilateral pattern VEP, right>left; Neurocranium MRI: Diffuse narrowing in corpus callosum with periventricular hyper signal foci in FLAIR, mild dilatation of lateral ventricles, could be related to mild old PVL. - SPG11 1 1 Johan den Dunnen
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