Phenotypes for disease #05123 (SMA (atrophy, muscular, spinal (SMA)))

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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102 entries on 2 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000044437	no death in teenage years, no myoclonic epilepsy, no serious pulmonary involvement; CPK: normal; waddling gait, limb weakness	-	-	Familial, autosomal recessive	-	30y	03y	-	-	Mirella Filocamo	00057786
0000054460	Parkinsonism	-	-	Familial, autosomal recessive	28y	28y	16y	-	-	Coro Paisan-Ruiz	00078523
0000092189	-	-	-	Isolated (sporadic)	-	-	-	-	-	Rosário dos Santos	00116710
0000092190	SMA 1, 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116711
0000092208	SMA 1/2	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116729
0000092212	-	-	-	Isolated (sporadic)	-	-	-	-	-	Rosário dos Santos	00116733
0000092213	-	-	-	Isolated (sporadic)	-	-	-	-	-	Rosário dos Santos	00116734
0000092214	-	-	-	Unknown	-	-	-	-	-	Rosário dos Santos	00116735
0000092219	SMA 1 or 2	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116740
0000092220	SMA 1, 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116741
0000092223	SMA 1, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116744
0000092224	SMA 1, 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116745
0000092228	SMA 1 or 2	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116749
0000092231	SMA 1, 2	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116752
0000092234	SMA 1, 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116755
0000092235	SMA 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116756
0000092239	SMA 2, 3	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00116760
0000092275	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00116796
0000162132	-	spinal muscular atrophy	-	Isolated (sporadic)	-	-	-	-	WB no CAPN3	Johan den Dunnen	00213680
0000162327	SMA-3; CPK elevated (HP:0003236); still able to walk (-HP:0006957) ; still able to walk (-HP:0006957)	spinal muscular atrophy	-	Unknown	-	-	2y	toe walking, climbing stairs	-	Johan den Dunnen	00213875
0000162814	SMA-3	spinal muscular atrophy	-	Unknown	-	-	-	-	-	Johan den Dunnen	00214362
0000165271	severe	spinal muscular atrophy	-	Isolated (sporadic)	-	13y	<1y	-	-	Johan den Dunnen	00216819
0000167549	SMA	spinal muscular atrophy	SMALED-2	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00218992
0000174773	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	spinal muscular atrophy	SMA-3	Familial, autosomal recessive	42y	-	-	-	-	Johan den Dunnen	00234355
0000174775	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	spinal muscular atrophy	SMA-3	Familial, autosomal recessive	31y	-	03y	-	-	Johan den Dunnen	00234356
0000174778	see paper; ..., SMA-IIIb	spinal muscular atrophy	SMA-3	Familial, autosomal recessive	29y	-	-	-	-	Johan den Dunnen	00234360
0000180472	see paper; ..., sporadic and atypical form of spinal muscular atrophy	atypical spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00240408
0000210213	diagnosed with spinal muscular atrophy with SMN1 deletion	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00275007
0000237346	-	spinal muscular atrophy	SMAX3	-	-	-	-	-	-	Zeynep Tümer	00312215
0000237379	-	spinal muscular atrophy	SMAX3	-	-	-	-	-	-	Zeynep Tümer	00312248
0000242881	Delayed ability to walk; Global developmental delay	-	-	Unknown	03y	-	-	-	-	Andreas Laner	00324338
0000297477	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404919
0000297478	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404920
0000297479	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404921
0000297480	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404922
0000297481	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404923
0000297482	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404924
0000297483	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404925
0000297484	-	spinal muscular atrophy	CMTRIC	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404926
0000297485	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404927
0000297486	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404928
0000297487	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404929
0000297488	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404930
0000297489	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404931
0000297490	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404932
0000297491	-	spinal muscular atrophy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404933
0000297526	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404968
0000297527	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404969
0000297528	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404970
0000297529	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404971
0000297530	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404972
0000297531	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404973
0000297532	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404974
0000297533	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404975
0000297534	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404976
0000297535	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404977
0000297536	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404978
0000297537	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404979
0000297538	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404980
0000297539	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404981
0000297540	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404982
0000297541	-	spinal muscular atrophy	SMA	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404983
0000303270	see paper; ..., spinal muscular atrophy	spinal muscular atrophy	SMA1	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00411195
0000350528	see paper; ..., 12y-muscle weakness left, 30y-walk with cane; 45y-wheelchair-bound	-	-	Familial, autosomal recessive	-	56y	12y	muscle weakness of the left foot	-	Tamaki Kato	00464528
0000352780	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	spinal muscle atrophy with progressive myoclonic epilepsy	SMAPME	Familial, autosomal recessive	-	18m	15m	-	-	Mohamed A. Elmonem	00467570
0000352781	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	spinal muscle atrophy with progressive myoclonic epilepsy	SMAPME	Familial, autosomal recessive	-	28m	16m	-	-	Mohamed A. Elmonem	00467571
0000357720	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.	spinal myscular atrophy	-	Familial, autosomal recessive	32y	-	-	-	-	Johan den Dunnen	00472925
0000357723	Sporadic case, age 6 months, hypotonia, floppy baby, elevated CPK, myopathic process in EMG, Hx of pneumonia (aspiration pneumonia).	spinal myscular atrophy	-	Familial, autosomal recessive	6m	-	-	-	-	Johan den Dunnen	00472928
0000357778	Low birth weight; Development delay, motor; Muscle weakness; Abnormal gait; Polyneuropathy; EMG-NCV: chronic ant horn cell disease or poly radiculopathy.	spinal myscular atrophy	-	Familial, autosomal recessive	26y	-	-	-	-	Johan den Dunnen	00472983
0000357783	Deceased child with mild hypotonia; lower limb weakness; difficulty walking & abnormal gait; seizure (once); long face; open mouth; EMG-NCV: myopathic process.	spinal myscular atrophy	-	Familial, autosomal recessive	3y	-	-	-	-	Johan den Dunnen	00472988
0000357807	onset 12y with difficulty walking; Areflexia, distal lower limbs; Motor neuropathy; Muscle weakness; Pes cavus; EMG-NCV: Chronic motor neuropathy; Distal SMA.	spinal myscular atrophy	-	Unknown	13y	-	-	-	-	Johan den Dunnen	00473012
0000357817	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.	spinal myscular atrophy	-	Unknown	13y	-	-	-	-	Johan den Dunnen	00473022
0000357819	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.	spinal myscular atrophy	-	Unknown	13y	-	-	-	-	Johan den Dunnen	00473024
0000357870	onset 9-month; Hypotonia, mild; Difficulty rising from a sitting position; Frequent falls; Wheelchair bound from 5y ago; EMG-NCV: anterior horn cell disease.	spinal myscular atrophy	-	Familial, X-linked	30y	-	-	-	-	Johan den Dunnen	00473075
0000357909	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.	spinal myscular atrophy	-	Familial, autosomal recessive	2y	-	-	-	-	Johan den Dunnen	00473114
0000357921	Difficulty walking, running & climbing steps; Feet drop; Positive Gowers sign; Hypotonia; Mildly increased CPK; EMG-NCV: suggestive of diffuse ant. horn cell disease.	spinal myscular atrophy	-	Unknown	8y	-	-	-	-	Johan den Dunnen	00473126
0000358005	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	spinal myscular atrophy	-	Familial, autosomal recessive	14y	-	-	-	-	Johan den Dunnen	00473210
0000358019	onset 20y with lower limbs weakness; Spastic gait; Babinski sign; Increased DTR; EMG-NCV: neurogenic changes compatible with chronic anterior horn cell disease.	spinal myscular atrophy	-	Familial, autosomal recessive	35y	-	-	-	-	Johan den Dunnen	00473224
0000358105	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.	spinal myscular atrophy	-	Familial, autosomal dominant	61y	-	-	-	-	Johan den Dunnen	00473310
0000358197	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	spinal myscular atrophy	-	Unknown	48y	-	-	-	-	Johan den Dunnen	00473402
0000358217	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	spinal myscular atrophy	-	Familial, autosomal recessive	23y	-	-	-	-	Johan den Dunnen	00473422
0000358313	Muscular weakness; progressive, upper limbs; Muscle wasting, proximal; Hyperlordosis; Difficulty running & rising from seated position; Wheelchair-bound.	spinal myscular atrophy	-	Unknown	21y	-	-	-	-	Johan den Dunnen	00473518
0000358314	onset 40y , lower muscle cramps, foot drop, lower muscle weakness with neuropathy, climbing difficulty, chronic anterior horn cell disease reported in EMG/NCV.	spinal myscular atrophy	-	Familial, autosomal dominant	59y	-	-	-	-	Johan den Dunnen	00473519
0000358380	Muscle weakness, severe, progressive	spinal myscular atrophy	-	Familial, autosomal recessive	1y	-	-	-	-	Johan den Dunnen	00473585
0000358383	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	spinal myscular atrophy	-	Familial, autosomal recessive	26y	-	-	-	-	Johan den Dunnen	00473588
0000358420	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.	spinal myscular atrophy	-	Unknown	23y	-	-	-	-	Johan den Dunnen	00473625
0000358492	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	spinal myscular atrophy	-	Familial, autosomal recessive	28y	-	-	-	-	Johan den Dunnen	00473697
0000358494	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	spinal myscular atrophy	-	Unknown	3/5y	-	-	-	-	Johan den Dunnen	00473699
0000358510	Fracture of femor, bilateral; Club foot (left?); Hypotonia at birth; Respiratory failure	spinal myscular atrophy	-	Unknown	2m	-	-	-	-	Johan den Dunnen	00473715
0000358528	Increased muscle fatigability; Muscle weakness; Skeletal muscle atrophy; Myopia (based on HPO nomenclature). EMG-NCV: chronic neurogenic change	spinal myscular atrophy	-	Familial, autosomal dominant	23y	-	-	-	-	Johan den Dunnen	00473733
0000358561	onset 28y with toe walking difficulty; Muscle weakness, mild; EMG-NCV suggestive of restricted form of chronic motor neuronopathy.	spinal myscular atrophy	-	Unknown	46y	-	-	-	-	Johan den Dunnen	00473766
0000358562	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.	spinal myscular atrophy	-	Familial, autosomal recessive	22y	-	-	-	-	Johan den Dunnen	00473767
0000358591	Delayed walking; Flat feet; Tip-toe walking; Strabismus; Muscular atrophy; Scoliosis; Hyperlordosis; Hypotonia of distal of Rt. hand; Wheelchair bound since 7y ago.	spinal myscular atrophy	-	Unknown	21y	-	-	-	-	Johan den Dunnen	00473796
0000358607	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.	spinal myscular atrophy	-	Unknown	1y	-	-	-	-	Johan den Dunnen	00473812
0000358636	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.	spinal myscular atrophy	-	Familial, autosomal recessive	8m	-	-	-	-	Johan den Dunnen	00473841
0000358637	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.	spinal myscular atrophy	-	Unknown	18y	-	-	-	-	Johan den Dunnen	00473842
0000358651	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.	spinal myscular atrophy	-	Familial, autosomal recessive	20y	-	-	-	-	Johan den Dunnen	00473856
0000358697	onset:2y, Borderline IQ; Difficulty climbing steps; Proximal muscle weakness, lower>upper; Tremor; Dysmetria; EMG-NCV: neurogenic process.	spinal myscular atrophy	-	Familial, autosomal recessive	6y	-	-	-	-	Johan den Dunnen	00473902
0000358715	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.	spinal myscular atrophy	-	Familial, autosomal recessive	18y	-	-	-	-	Johan den Dunnen	00473920
0000358716	onset 28y; Lower muscle weakness, distal, due to neuropathy, Lt>Rt; Waddling gait; Bicornuate uterus; Single kidney; EMG-NCV: chronic denervation and reinnervation, in favor of chronic restricted anterior horn cell disease in both lower limbs or their axons, lumbosacral polyradiculopathy or both; Thigh and cuff MRI: diffuse fatty atrophy, in favor of chronic denervation of muscle or chronic motor neuropathy.	spinal myscular atrophy	-	Unknown	28y	-	-	-	-	Johan den Dunnen	00473921

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