Disease #07236 (motor neuron disease (motor neuron disease))

Official abbreviation motor neuron disease
Name motor neuron disease
OMIM ID -
Inheritance -
Individuals reported having this disease 25
Phenotype entries for this disease 25
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2026-03-03 15:11:15 +01:00 (CET)
Date last edited N/A


Individuals

25 entries on 1 page. Showing entries 1 - 25.
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00472948 Fam9107252Pat45 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - motor neuron disease onset of weakness since 6-month ago; Upper & lower limbs weakness & atrophy; Dysarthria; Fasciculations; Tongue fibrillation; Difficulty swallowing; Increased DTR; EMG-NCV: active motor neuron disease such as ALS. - PLEKHG5 2 1 Johan den Dunnen
00472966 Fam9605943Pat63 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - motor neuron disease Speech problem; Attention deficit; Aggression; Muscle spasticity, upper limbs, mild; Drooling; Parkinson like gait; Pituitary gland MRI: microadenoma; Brain MRI: generalized atrophic changes and mild bilateral cortical and cerebellar atrophy - DCTN1, DNMT1 2 1 Johan den Dunnen
00473076 Fam14998Pat196 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - motor neuron disease onset 7y , frequent falling, muscle weakness (distal more than proximal) ,lower more than upper extrimities involved , pes cavus ,compatible with chronic axonal motor neuropathy,dHMNand myopathy excluded (reported in EMG/NCV),negative for SMN screening (suspected to SMA typeIII). - SIGMAR1 1 1 Johan den Dunnen
00473139 Fam101707Pat276 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - motor neuron disease onset 58y with hand weakness; Hand & feet paresthesia, Lt. > Rt. hand; Twitching & fasciculations, hands; Fatigue; EMG-NCV: chronic focal motor neuron disease. - SOD1 1 1 Johan den Dunnen
00473150 Fam102942Pat296 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - motor neuron disease onset 14y, Mild neuropathy of hands & feet; Distal lower & upper muscle weakness due to neuropathy; Pes cavus; EMG-NCV: in favor of active motor neuron disorders; Elevated CPK; Brain MRI: mild senile global cortical atrophy and moderate to severe generalized cerebellar atrophy. - SYNE1 1 1 Johan den Dunnen
00473311 Fam203038Pat549 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - motor neuron disease Progressive lower and muscle weakness started 15y, bulbar dysfunction, dysphagia, dysarthria, achalasia, lower muscle atrophy, tongue weakness and atrophy, and motor neuron disease reported in EMG/NCV - SPG11 1 1 Johan den Dunnen
00473324 Fam203907Pat570 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - motor neuron disease Sporadic case, started 15y earlier with upper muscle weakness, muscle cramps and neck muscle weakness, scapula winging, normal CPK, motor neuron disease reported in EMG/NCV. - POLR3B 1 1 Johan den Dunnen
00473329 Fam204348Pat577 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - motor neuron disease started 8y, foot drop, neuropathy, lower muscle weakness and cramps, mild atrophy, bulbar dysfunction, dysphasia, dysarthria and gait abnormality - SOD1 1 1 Johan den Dunnen
00473375 Fam207438Pat655 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M no Iran - - - - - motor neuron disease onset 8y, Muscle weakness; Difficulty climbing steps; Difficulty heel walking; Fatigable weakness following short walking; Elevated LDH levels; EMG-NCV: suggestive of motor neuron disease; Muscle biopsy: muscular dystrophy with excess lobulated fibers and secondary neurogenic changes - LMNA 1 1 Johan den Dunnen
00473398 Fam208339Pat686 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - motor neuron disease Started 3-4 months ago, left sided weakness , upper motor weakness, later lower motor weakness, proximal more than dista, hand atrophy, motor neuron disease reported in EMG - TNNT1 1 1 Johan den Dunnen
00473425 Fam209827Pat729 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - motor neuron disease Sporadic case, started 6 months ago, proximal upper and lower muscle weakness and atrophy ,tremor, dysarthria, dysphagia, fasciculation, active motor neuron disease suggested in EDX. - FUS 1 1 Johan den Dunnen
00473441 Fam211058Pat755 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M no Iran - - - - - motor neuron disease Started 6y, distal lower and upper muscle weakness (neuropathy), gait abnormality, toe-heel walking inability, fasciculation, muscle cramps and denervation renervation and active motor neuron disease reported in EDX, history of ALS in the brother and grandfather. - SOD1 1 1 Johan den Dunnen
00473450 Fam211624Pat768 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - motor neuron disease Sporadic case, distal upper muscle weakness and paresthesia started 8 months ago, distal upper and lower neuropathy ,fasciculation, muscle cramps, heel walking inability and periventricular and deep white matter lesions reported in brain MRI. - SPTLC1 1 1 Johan den Dunnen
00473453 Fam211872Pat776 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - motor neuron disease onset since 5y ago with unilateral hand tremor, at rest, which extended to whole body; Mild weakness; Dysphagia; Dysarthria; Normal Brain MRI; Low ceruloplasmin & high copper level in the urine, suspicion of Wilson disease; EMG-NCV: moderate neurogenic process involving both upper/lower limb and cranial muscles with signs of old axonal loss probably suggestive of motor neuron disorder - C10orf2 1 1 Johan den Dunnen
00473462 Fam212436Pat790 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M no Iran - - - - - motor neuron disease Started 4 months ago with dysphagia, dysarthria and demetia, urinary incontinence, normal muscle tonicity, Motor Neuron Disease reported in bulbar region reported in EDX. - MAPT 1 1 Johan den Dunnen
00473483 Fam301364Pat834 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - motor neuron disease onset since 7-8 months ago; Pain; Paresthesia; Slight dysphagia; Slight Lt. upper limb weakness; Inability heel walking, unilateral; EMG: anterior horn cell disease in left cervical and lumbosacral regions. - SOD1 1 1 Johan den Dunnen
00473496 Fam302218Pat854 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - motor neuron disease sporadic case, age 45y old, started 40y with frequent falling and muscle cramps , gait abnormality , proximal upper and lower muscle weakness, positivie Gowers sign, dysphagia, dysarthria, motor neuron disease reported in EDX - SOD1 1 1 Johan den Dunnen
00473870 Fam9805397Pat1374 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - motor neuron disease Developmental delay; No speech; Chewing difficulty; Drooling; Muscle weakness; Cerebellar atrophy; Cerebral palsy (CP); Urine organic acid: slight elevation of lactic acid and elevated 3-hydroxybutyric acid; Anemia. - EXOSC3 1 1 Johan den Dunnen
00473887 Fam9808372Pat1396 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - motor neuron disease onset 15y with feet weakness and difficulty walking; Muscle weakness, legs>arms, proximal>distal; Mild wasting in proximal of legs; Mild ataxia; Hands tremor; Abnormal gait; Genu valgum; Difficulty walking, running and climbing steps; Prominent calves; EMG-NCV: motor neuron disease. Elevated level of CPK. - COL6A3 1 1 Johan den Dunnen
00473899 Fam9810540Pat1412 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - motor neuron disease onset 38y with lower muscle weakness; Decreased muscle force in lower limbs; Muscle cramp; Gait abnormality; EMG-NCV: active denervation and chronic neurogenic changes in upper and extremity muscles. Fasciculation and fibrillation in tongue and neurogenic MUPs in abdominal muscles; probably due to motor neuron disease. - SOD1 1 1 Johan den Dunnen
00473909 Fam9812349Pat1425 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - motor neuron disease onset 6y, Motor developmental delay; Sway-back posture, lordosis; Pes valgus; High arched feet; Muscle weakness; Peroneal atrophy; Constipation; EMG-NCV: distal SMA. - SIGMAR1 1 1 Johan den Dunnen
00473910 Fam9812750Pat1426 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - motor neuron disease onset 19y, Upper motor neuron lesion; Nervous sys imaging: Mild cerebellar atrophy; Dystonia; Hypertonia; Spasticity; Muscle weakness; Anemia. - CAPN1 1 1 Johan den Dunnen
00473939 Fam9905879Pat1467 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M no Iran - - - - - motor neuron disease onset since 7-mo ago with right lower muscle weakness extended to left side; Positive Gowers sign; Muscle atrophy; Abnormality of gait; EMG-NCV: early stage of anterior horn cell disease. - SOD1 1 1 Johan den Dunnen
00473959 Fam9910245Pat1491 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - motor neuron disease onset 64y, Proximal muscle weakness, asymmetric, lower>upper, Rt>Lt leg; Difficulty rising from seated position & climbing steps; Ataxia; Numbness; Sweating; EMG-NCV suggestive of upper motor neuron disease. - SOD1 1 1 Johan den Dunnen
00473986 Fam9915399Pat1522 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - motor neuron disease onset 29.5y with fasciculations in distal of upper limb muscle; Upper limb muscle atrophy, distal; Dysarthria; Nasal speech; Generalized muscle fasciculations; Hyperreflexia; Spasticity; EMG_NCV: motor neuron disease; MRI of cervical spine revealed hemangioma in body of C3 spine - SORD 1 1 Johan den Dunnen
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