Disease #05123 (SMA (atrophy, muscular, spinal (SMA)))

Official abbreviation SMA
Name atrophy, muscular, spinal (SMA)
OMIM ID -
Inheritance -
Individuals reported having this disease 103
Phenotype entries for this disease 102
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2016-01-24 01:41:54 +01:00 (CET)
Date last edited N/A


Individuals

103 entries on 2 pages. Showing entries 1 - 100.
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00057786 - - family, 2 patients F yes Pakistan Pakistan >30y - - - SMA no death in teenage years, no myoclonic epilepsy, no serious pulmonary involvement; CPK: normal; waddling gait, limb weakness ASAH1 ASAH1 2 2 Mirella Filocamo
00078523 - - - M yes Iran Asian ? - - - SMA Parkinsonism DNAJB2 DNAJB2 1 1 Coro Paisan-Ruiz
00116710 - - 165 unrelated families Portugal M - Portugal - - - - - SMA - SMN1 SMN1 2 165 Rosário dos Santos
00116711 - PubMed: Ogino 2004 - - - - - - - - - SMA SMA 1, 2, 3 SMN1 SMN1 2 1 Johan den Dunnen
00116729 - PubMed: Sun 2005 - - - Germany - - - - - SMA SMA 1/2 SMN1 SMN1 2 1 Johan den Dunnen
00116733 - - - M - Portugal - - - - - SMA - SMN1 SMN1 2 1 Rosário dos Santos
00116734 - - - M - Portugal - - - - - SMA - SMN1 SMN1 2 1 Rosário dos Santos
00116735 - - 11 unrelated patients - - Portugal - - - - - SMA - SMN1 SMN1 2 11 Rosário dos Santos
00116740 - PubMed: Tsai 2001 - - - - - - - - - SMA SMA 1 or 2 SMN1 SMN1 2 1 Johan den Dunnen
00116741 - PubMed: Martin 2002 3 unrelated cases - - - - - - - - SMA SMA 1, 2, 3 SMN1 SMN1 2 3 Johan den Dunnen
00116744 - PubMed: Wirth 1999 2 unrelated cases - - - - - - - - SMA SMA 1, 3 SMN1 SMN1 2 2 Johan den Dunnen
00116745 - PubMed: Parsons 1998, PubMed: Parsons 1998 3 unrelated cases - - - - - - - - SMA SMA 1, 2, 3 SMN1 SMN1 2 3 Johan den Dunnen
00116749 - PubMed: Tsai 2001 - - - - - - - - - SMA SMA 1 or 2 SMN1 SMN1 2 1 Johan den Dunnen
00116752 - Clermont 1997, PubMed: Martin 2002, PubMed: Parsons 1996, PubMed: Wirth 2000 7 unrelated cases - - - - - - - - SMA SMA 1, 2 SMN1 SMN1 2 7 Johan den Dunnen
00116755 - PubMed: Rochette 1997, PubMed: Wirth 2000, PubMed: Wirth 1999 8 unrelated cases - - - - - - - - SMA SMA 1, 2, 3 SMN1 SMN1 2 8 Johan den Dunnen
00116756 - PubMed: Hahnen 1997, PubMed: Parsons 1998, PubMed: Wirth 1999 2 unrelated cases - - - - - - - - SMA SMA 2, 3 SMN1 SMN1 2 2 Johan den Dunnen
00116760 - PubMed: Wang 1998 2 unrelated cases - - - - - - - - SMA SMA 2, 3 SMN1 SMN1 2 2 Johan den Dunnen
00116796 24498607 PubMed: Kirwin 2013 5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier relatives F;M yes Saudi Arabia - - - - - SMA see paper; ... SMN1 SMN1 2 3 Johan den Dunnen
00213680 - PubMed: Starling 1M / 4F - - Brazil - - - - - SMA - CAPN3 CAPN3 2 5 Johan den Dunnen
00213875 - PubMed: Georgieva 2005, PubMed: Todorova 2007 - F - Bulgaria - >10y - - - SMA SMA-3; CPK elevated (HP:0003236); still able to walk (-HP:0006957) ; still able to walk (-HP:0006957) CAPN3 CAPN3 1 1 Johan den Dunnen
00214362 - PubMed: Georgieva 2005, PubMed: Todorova 2007 - F - Bulgaria - - - - - SMA SMA-3 CAPN3 CAPN3 2 1 Johan den Dunnen
00216819 20848652_Pat8281 PubMed: Scherner 2011 - F - United States - - - - - SMA severe LMNA LMNA 1 1 Johan den Dunnen
00218992 28902413-Pat2 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - SMA SMA BICD2 BICD2 1 1 Johan den Dunnen
00234355 Pat1 PubMed: Prior 2009 - F no United States - - - - - SMA see paper; ..., normal early motor milestones, walking on toes, slow in grade school activities, often uses hand assist going up and down steps; high school slight weakness hips; disease declared itself in early 20s (falling); very slight levoscoliosis; SMA type IIIb SMN1, SMN2 SMN1, SMN2 2 1 Johan den Dunnen
00234356 Pat2 PubMed: Prior 2009 - F - United States - - - - - SMA see paper; ..., early motor milestones normal (9m-crawl, 15m-stand with support, 18m-walk; 2–3 years gait unsteady, hold on to furniture while waking; 5-6y assisted ambulation; 12y-wheelchair dependent; 14y-scoliosis surgery SMN1, SMN2 SMN1, SMN2 3 1 Johan den Dunnen
00234360 Pat3 PubMed: Prior 2009 - M - United States - - - - - SMA see paper; ..., SMA-IIIb SMN1, SMN2 SMN1, SMN2 3 1 Johan den Dunnen
00240408 patient PubMed: Kernohan 2017, PubMed: Fresard 2019 - M no Canada - - - - - SMA see paper; ..., sporadic and atypical form of spinal muscular atrophy ASAH1 ASAH1 2 1 Johan den Dunnen
00275007 Patient 1 Mammo 2015 PubMed: Mammo 2015 - M no Taiwan - 00y08m - - - EVR1, SMA diagnosed with spinal muscular atrophy with SMN1 deletion, Leukocoria HP:0000555 Anterior chamber synechiae HP:0007833 Peripheral retinal avascularization HP:0007685 - FZD4 1 1 Dimitra Ilektra Lerou
00312215 - PubMed: Kennerson 2010 - - - - - - - - - SMA - ATP7A ATP7A 1 1 Zeynep Tümer
00312248 - PubMed: Kennerson 2010 - - - - - - - - - SMA - ATP7A ATP7A 1 1 Zeynep Tümer
00324338 - - submission from patient via MGZ - Laner F ? - - - - - - SMA Delayed ability to walk; Global developmental delay DYNC1H1 DYNC1H1 1 1 Andreas Laner
00404919 Fam1 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - SMN1 SMN1 1 1 Johan den Dunnen
00404920 Fam2 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - SMN1 NAIP, SMN1 3 1 Johan den Dunnen
00404921 Fam3 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - SMN1 NAIP, SMN1 3 1 Johan den Dunnen
00404922 Fam4 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - SMN1 NAIP, SMN1 3 1 Johan den Dunnen
00404923 Fam5 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - SMN1 NAIP, SMN1 3 1 Johan den Dunnen
00404924 Fam6 PubMed: Sharifi 2021 analysis 432 SMA families; 6-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes Iran - - - - - SMA - SIGMAR1 SIGMAR1 1 1 Johan den Dunnen
00404925 Fam7 PubMed: Sharifi 2021 analysis 432 SMA families; 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - SMA - DNAJB2 DNAJB2 1 1 Johan den Dunnen
00404926 Fam8 PubMed: Sharifi 2021 analysis 432 SMA families; 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - SMA - PLEKHG5 PLEKHG5 1 1 Johan den Dunnen
00404927 Fam9 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - - TNNT1 1 1 Johan den Dunnen
00404928 Fam10 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - - TPM3 1 1 Johan den Dunnen
00404929 Fam11 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - - TTN 1 1 Johan den Dunnen
00404930 Fam12 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - - SACS 1 1 Johan den Dunnen
00404931 Fam13 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - - TPM3 1 1 Johan den Dunnen
00404932 Fam14 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - - COL6A2 1 1 Johan den Dunnen
00404933 Fam15 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - - PLA2G6 2 1 Johan den Dunnen
00404968 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 SMN1 1 7 Johan den Dunnen
00404969 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 SMN1 1 3 Johan den Dunnen
00404970 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1 3 7 Johan den Dunnen
00404971 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1, SMN2 3 3 Johan den Dunnen
00404972 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1, SMN2 3 4 Johan den Dunnen
00404973 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1 2 143 Johan den Dunnen
00404974 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1, SMN2 3 19 Johan den Dunnen
00404975 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1, SMN2 3 5 Johan den Dunnen
00404976 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1, SMN2 3 2 Johan den Dunnen
00404977 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1 2 30 Johan den Dunnen
00404978 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1, SMN2 3 22 Johan den Dunnen
00404979 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1, SMN2 3 4 Johan den Dunnen
00404980 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 NAIP, SMN1, SMN2 3 2 Johan den Dunnen
00404981 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 SMN1, SMN2 2 8 Johan den Dunnen
00404982 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 SMN1, SMN2 2 15 Johan den Dunnen
00404983 - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - NAIP, SMN1, SMN2 SMN1 1 10 Johan den Dunnen
00411195 Fam1PatIV2 PubMed: Bai 2022 4-generation family, 1 affected, unaffected heterozygous parents, 2 unaffected males carrying DMD variant F;M no China - - - - - SMA see paper; ..., spinal muscular atrophy DMD, SMN1 CXorf59, DMD, SMN1 4 1 Johan den Dunnen
00425370 Pat355 PubMed: Shirzadeh 2018 MLPA shows total deletion of SMN1 and NAIP, 2 copies of SMN2, confirming diagnosis severe SMA, contributing to infant’s death M - Iran - - - - - PKU, SMA reduced phenylalanine diet; 5m-muscular dysfunction, poor feeding, weakness, respiratory distress, suspected diagnosis of spinal muscular atrophy PAH PAH 2 1 Johan den Dunnen
00464528 - - PubMed: Kato 2025 F yes Japan - - - - - SMA see paper; ..., 12y-muscle weakness left, 30y-walk with cane; 45y-wheelchair-bound SMN1 SMN1 1 1 Tamaki Kato
00467570 Fam13Pat14 PubMed: Mahmoud 2020 sister F yes Egypt - - - - - SMA see paper; ..., mild; no hoarseness of voice; no joint pain, no joint contractures; no subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, seizures ASAH1 ASAH1 1 1 Mohamed A. Elmonem
00467571 Fam14 PubMed: Mahmoud 2020 5-generation family, 1 affected, unaffected parents M yes Egypt - 2y6m - - - SMA see paper; ..., severe; 30m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, no seizures ASAH1 ASAH1 1 1 Mohamed A. Elmonem
00472925 Fam111068Pat22 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F no Iran - - - - - SMA onset 15y , multiple affected individuals ,non-consanguineous parents , lower muscle weakness and cramps, decreased DTR, lower and bulbar muscle involvement , dysarthria , unbalanced gait,chronic motor neurogenic process reported in EMG/NCV,negative for SMN deletion screening , focal periventricular high density reported in brain MRI. - SPG11 2 1 Johan den Dunnen
00472928 Fam202080Pat25 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - SMA Sporadic case, age 6 months, hypotonia, floppy baby, elevated CPK, myopathic process in EMG, Hx of pneumonia (aspiration pneumonia). - LAMA2 2 1 Johan den Dunnen
00472983 Fam9802684Pat80 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - SMA Low birth weight; Development delay, motor; Muscle weakness; Abnormal gait; Polyneuropathy; EMG-NCV: chronic ant horn cell disease or poly radiculopathy. - COL6A2 2 1 Johan den Dunnen
00472988 Fam9806989Pat85 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient (deceased), no family history M no Iran - - - - - SMA Deceased child with mild hypotonia; lower limb weakness; difficulty walking & abnormal gait; seizure (once); long face; open mouth; EMG-NCV: myopathic process. - NEB 2 1 Johan den Dunnen
00473012 Fam3702Pat114 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - SMA onset 12y with difficulty walking; Areflexia, distal lower limbs; Motor neuropathy; Muscle weakness; Pes cavus; EMG-NCV: Chronic motor neuropathy; Distal SMA. - SETX 1 1 Johan den Dunnen
00473022 Fam5881Pat130 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - SMA onset 8y with proximal muscle weakness, lower>upper limbs; Abnormal gait; Feet drop, mild; EMG-NCV: active & chronic generalized disorder of the motor neurons, consistent with anterior horn cell disease. - LMNA 1 1 Johan den Dunnen
00473024 Fam6117Pat132 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - SMA onset 11y with lower limbs muscle weakness, distal and abnormality of gait; Distal motor neuropathy; Pes cavus; Increased level of CPK; EMG-NCV: hereditary motor neuron disease suggestive of distal SMA. - SCO2 1 1 Johan den Dunnen
00473075 Fam14997Pat195 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F no Iran - - - - - SMA onset 9-month; Hypotonia, mild; Difficulty rising from a sitting position; Frequent falls; Wheelchair bound from 5y ago; EMG-NCV: anterior horn cell disease. - SMN1 1 1 Johan den Dunnen
00473114 Fam18543Pat240 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - SMA onset 4-month; Developmental delay, motor; inability to hold neck; Hypotonia; Elevated CPK level; EMG-NCV: generalized neurogenic process involving all limbs, more severe in upper limbs, highly suggestive of SMA, type 1. MLPA for exons VII and VIII in SMN1 & SMN2 genes in this laboratory revealed this individual has inherited two copies of exons 7&8 in SMN1 gene. Parents are distant relatives with absence of family history. - LAMA2 1 1 Johan den Dunnen
00473126 Fam100687Pat258 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - SMA Difficulty walking, running & climbing steps; Feet drop; Positive Gowers sign; Hypotonia; Mildly increased CPK; EMG-NCV: suggestive of diffuse ant. horn cell disease. - ASAH1 1 1 Johan den Dunnen
00473210 Fam109617Pat399 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - SMA two affected siblings, onset 12y , unbalanced gait, hand tremor, learning impairment ,lack of concentration and movement regression , normal CPK, diffuse cerebellar atrophy in brain MRI, negative result for Pompe, neurogenic atrophy with denervation reinnervation process reported in muscle biopsy, motor neuron disease reported in EMG/NCV - HEXB 1 1 Johan den Dunnen
00473224 Fam110379Pat415 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - SMA onset 20y with lower limbs weakness; Spastic gait; Babinski sign; Increased DTR; EMG-NCV: neurogenic changes compatible with chronic anterior horn cell disease. - SPG7 1 1 Johan den Dunnen
00473310 Fam203028Pat548 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - SMA onset 14y ago; Lower & upper distal muscle weakness & atrophy due to neuropathy; Difficulty heel & toe walking; EMG-NCV: chronic motor polyneuropathy/neuronopathy with addition evidence of bilateral CTS. - CHMP2B 1 1 Johan den Dunnen
00473402 Fam208518Pat691 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - SMA Sporadic case, started 7y, muscle cramp after exercise, fasciculation, mild muscle atrophy in distal upper limb, no facial weakness, motor neuron disease reported in EDX, non specific white matter lesions reported in brain MRI - KIF5A 1 1 Johan den Dunnen
00473422 Fam209368Pat723 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - SMA sporadic case, age 23y old, started 5y with distal muscle weakness, gait difficulty , distal spasticity in toes , tremor , anterior horn cell disease reported in EDX - ZFYVE26 1 1 Johan den Dunnen
00473518 Fam8905660Pat889 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - SMA Muscular weakness; progressive, upper limbs; Muscle wasting, proximal; Hyperlordosis; Difficulty running & rising from seated position; Wheelchair-bound. - PLEKHG5 1 1 Johan den Dunnen
00473519 Fam8907356Pat891 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - SMA onset 40y , lower muscle cramps, foot drop, lower muscle weakness with neuropathy, climbing difficulty, chronic anterior horn cell disease reported in EMG/NCV. - HSPB1 1 1 Johan den Dunnen
00473585 Fam9408506Pat976 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - SMA Muscle weakness, severe, progressive - LAMA2 1 1 Johan den Dunnen
00473588 Fam9409793Pat979 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - SMA Developmental delay, mild; Head and hand tremor; Proximal muscle weakness, lower>upper limbs; Facial weakness, mild; Difficulty swallowing; Muscle atrophy, thenar and hypothenar; Waddling gait; Gowers sign; Shoulder terracing, left; Hypermobility of joints, fingers and wrist - SYNE1 1 1 Johan den Dunnen
00473625 Fam9500400Pat1031 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - SMA onset 17y with difficulty climbing steps; Lower muscle weakness, proximal, lower>upper; Fasciculations; Hand tremor; Abnormal gait, imbalance; Lordosis, mild; Muscle cramp & spasm; CPK:594; Muscle biopsy: neurogenic atrophy with denervation and reinnervation process compatible with spinal muscular atrophy; EMG-NCV: chronic anterior horn cell disease. - SDHA 1 1 Johan den Dunnen
00473697 Fam9516048Pat1124 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - SMA age 28y , onset 10y, lower muscle weakness and walking difficulty, decreased DTR, fasciculation , muscle cramps, positive Gower’s sign, chronic active AHD reported in EDX and elevated CPK - DNAJB2 1 1 Johan den Dunnen
00473699 Fam9516629Pat1128 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - SMA Wrist drop; Delayed walking; Not able running; Difficulty climbing stairs & rising from seated position; Early teething; Hyperlordosis; Ataxia; Weakness of upper limbs; Hypotrophy of upper and lower limbs; Hypopigmented skin patch - COL6A2 1 1 Johan den Dunnen
00473715 Fam9603276Pat1151 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - SMA Fracture of femor, bilateral; Club foot (left?); Hypotonia at birth; Respiratory failure - UBA1 1 1 Johan den Dunnen
00473733 Fam9606064Pat1173 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - SMA Increased muscle fatigability; Muscle weakness; Skeletal muscle atrophy; Myopia (based on HPO nomenclature). EMG-NCV: chronic neurogenic change - DYNC1H1 1 1 Johan den Dunnen
00473766 Fam9614092Pat1221 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - SMA onset 28y with toe walking difficulty; Muscle weakness, mild; EMG-NCV suggestive of restricted form of chronic motor neuronopathy. - VRK1 2 1 Johan den Dunnen
00473767 Fam9614109Pat1222 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - SMA onset 17y with foot drop & lower muscle weakness; Distal lower muscle weakness due to neuropathy; Mild distal lower muscle atrophy; Abnormal gait; EMG-NCV: generalized chronic neurogenic process in lower motor neurons suggestive of SMA type III or chronic ant. horn disease. - SPG11 1 1 Johan den Dunnen
00473796 Fam9702442Pat1264 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - SMA Delayed walking; Flat feet; Tip-toe walking; Strabismus; Muscular atrophy; Scoliosis; Hyperlordosis; Hypotonia of distal of Rt. hand; Wheelchair bound since 7y ago. - IGHMBP2 1 1 Johan den Dunnen
00473812 Fam9704809Pat1284 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - SMA Preterm; Low birth weight; Hypotonia since birth; Respiratory problem since birth; Suspicion of seizure; Nasogastric tube feeding; died 4-mo.; Echocardiography was suggestive of small ASD, and suspicion of VSD, PFO and closing PDA. - MYBPC1 1 1 Johan den Dunnen
00473841 Fam9710999Pat1328 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient (deceased), no family history M yes Iran - - - - - SMA Deceased child with respiratory problem, Hypotonia & weakness, Poor sucking, Difficulty swallowing, Frog posture, Bell shaped chest, Weak cry, Internal rotation of arm, and EMG-NCV suggestive of chronic axonal type preganglionic lesion of multiple myotomes of upper/lower limbs. - TNNT1 1 1 Johan den Dunnen
00473842 Fam9711356Pat1329 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - SMA Proximal weakness of upper limbs; Thenar and hypothenar atrophy; Muscle spasm, proximal upper limbs, Rt>Lt; Mild hand tremor; EMG-NCV: chronic myopathic process; Muscle biopsy: neurogenic atrophy with denervation and reinnervation process; Elevated CPK. - PLEKHG5 1 1 Johan den Dunnen
00473856 Fam9802393Pat1354 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - SMA onset 11y with difficulty walking; Difficulty running & climbing steps; Hand muscle spasm; Distal & proximal muscle weakness in legs>arms, mild; Wasting in distal of legs; Tremor in hands; Feet drop; Claw hallux, bilateral; Pes cavus; Abnormal gait; EMG-NCV: chronic ant. horn cell, mostly lower limbs. - HINT1 1 1 Johan den Dunnen
00473902 Fam9811046Pat1416 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - SMA onset:2y, Borderline IQ; Difficulty climbing steps; Proximal muscle weakness, lower>upper; Tremor; Dysmetria; EMG-NCV: neurogenic process. - ASAH1 1 1 Johan den Dunnen
00473920 Fam9901122Pat1441 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - SMA Muscle wasting, lower & upper limbs since 1.5y ago; Pes cavus; Mild muscle limbs atrophy; EMG-NCV: chronic neurogenic changes, probably ant. horn cell disease. - SORD 1 1 Johan den Dunnen
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