Phenotypes for disease #07236 (motor neuron disease (motor neuron disease))

25 entries on 1 page. Showing entries 1 - 25.
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0000357743 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. Unknown 49y - - - Johan den Dunnen 00472948
0000357761 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 Unknown 23y - - - Johan den Dunnen 00472966
0000357871 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). Unknown 13y - - - Johan den Dunnen 00473076
0000357934 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. Familial, autosomal dominant 58y - - - Johan den Dunnen 00473139
0000357945 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. Familial, autosomal recessive 21y - - - Johan den Dunnen 00473150
0000358106 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 Unknown 36y - - - Johan den Dunnen 00473311
0000358119 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. Familial, autosomal dominant 55y - - - Johan den Dunnen 00473324
0000358124 motor neuron disease - started 8y, foot drop, neuropathy, lower muscle weakness and cramps, mild atrophy, bulbar dysfunction, dysphasia, dysarthria and gait abnormality Familial, autosomal recessive 55y - - - Johan den Dunnen 00473329
0000358170 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 Familial, autosomal dominant 11y - - - Johan den Dunnen 00473375
0000358193 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 Unknown 38y - - - Johan den Dunnen 00473398
0000358220 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. Familial, autosomal dominant 32y - - - Johan den Dunnen 00473425
0000358236 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. Familial, autosomal dominant 65y - - - Johan den Dunnen 00473441
0000358245 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. Unknown 70y - - - Johan den Dunnen 00473450
0000358248 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 Unknown 29y - - - Johan den Dunnen 00473453
0000358257 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. Unknown 71y - - - Johan den Dunnen 00473462
0000358278 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. Familial, autosomal recessive 42y - - - Johan den Dunnen 00473483
0000358291 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 Unknown 45y - - - Johan den Dunnen 00473496
0000358665 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. Familial, autosomal recessive 6y - - - Johan den Dunnen 00473870
0000358682 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. Unknown 26y - - - Johan den Dunnen 00473887
0000358694 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. Familial, autosomal dominant 41y - - - Johan den Dunnen 00473899
0000358704 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. Familial, autosomal recessive 24y - - - Johan den Dunnen 00473909
0000358705 motor neuron disease - onset 19y, Upper motor neuron lesion; Nervous sys imaging: Mild cerebellar atrophy; Dystonia; Hypertonia; Spasticity; Muscle weakness; Anemia. Unknown 26y - - - Johan den Dunnen 00473910
0000358734 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. Familial, autosomal dominant 47y - - - Johan den Dunnen 00473939
0000358754 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. Familial, autosomal dominant 64y - - - Johan den Dunnen 00473959
0000358781 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 Unknown 33y - - - Johan den Dunnen 00473986
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