Disease #04312 (CMS (myasthenic syndrome, congenital (CMS)))

Official abbreviation CMS
Name myasthenic syndrome, congenital (CMS)
OMIM ID -
Inheritance -
Individuals reported having this disease 757
Phenotype entries for this disease 676
Associated with 0 genes -
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757 entries on 8 pages. Showing entries 1 - 100.
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00035194 - - - - - Germany - - - - - ?, CMS CMS with episodic apnea CHAT CHAT 2 1 Andreas Laner
00057882 - PubMed: Huze 2009 sister of 19631309-III.4; 5 asymptomatic carriers F yes Switzerland - >42y - - - CMS 42y-mild bilateral lid ptosis, mild facial weakness, normal function axial muscles, glutei/psoas muscles slightly weak (MRC4+/5), difficulty walking on heels, thorax/pelvis thin AGRN AGRN 2 1 Johan den Dunnen
00057883 - PubMed: Huze 2009 brother of 19631309-III.5; 5 asymptomatic carriers M yes Switzerland - >36y - - - CMS difficulties running since early childhood, fluctuating right ptosis, intermittent mild masticatory difficulties (no dyspnea), thin thorax, flat feet AGRN AGRN 2 1 Johan den Dunnen
00057884 - PubMed: Huze 2009 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sibs - yes - - - - - - CMS - AGRN AGRN 1 2 Johan den Dunnen
00065207 26626625-Fam1PatII1 PubMed: Logan 2016, Journal: Logan 2016 2-generation family, 1 affected, unaffected heterozygous carrier mother F no United Kingdom (Great Britain) white, European >02y - - combination of 3,4-diaminopyridine, salbutamol, non-invasive ventilation and pyridostigmine CMS breathing difficulty (HP:0002094), feeding difficulty (HP:0011968), ptosis (HP:0000508), no ophthalmoparesis (-HP:0000597), no facial weakness (-HP:0010628), bulbar weakness (HP:0001283), proximal weakness upper limbs (HP:0008997), proximal weakness lower limbs (HP:0008994), distal weakness upper limbs (HP:0008959), distal weakness lower limbs (HP:0009053), axial weakness (HP:0003327), distal-joint laxity (HP:0002761), no contractures (-HP:0001371), no spinal rigidity (-HP:0003306), dysmorphic features (HP:0001999), decrement on RNS (HP:0003403), abnormal jitter (HP:?), lower-respiratory-tract infection (HP:0002783), variation in fiber size (HP:0003557), generalized hypotonia (HP:0001290), gastroesophageal reflux (HP:0002020) COL13A1 COL13A1 1 1 Jamie Zeegers
00065215 26626625-Fam2PatII1 PubMed: Logan 2016, Journal: Logan 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) Indian >27y - - - CMS feeding difficulty (HP:0011968), ptosis (HP:0000508), no ophthalmoparesis (-HP:0000597), facial weakness (HP:0010628), no bulbar weakness (-HP:0001283), no proximal weakness upper limbs (-HP:0008997), no proximal weakness lower limbs (-HP:0008994), distal weakness upper limbs (HP:0008959), no distal weakness lower limbs (-HP:0009053), right axial weakness (HP:0003327), no distal-joint laxity (-HP:0002761), no contractures (-HP:0001371), spinal rigidity (HP:0003306), dysmorphic features (HP:0001999), mild learning difficulties (HP:0001328), decrement on RNS (HP:0003403), abnormal jitter (HP:?), lower-respiratory-tract infection (HP:0002783), dyspnoea on exertion (HP:0001328), recurrent chest infections (HP:0002783) COL13A1 COL13A1 1 2 Jamie Zeegers
00065217 26626625-Fam2PatII2 PubMed: Logan 2016, Journal: Logan 2016 - F yes United Kingdom (Great Britain) Indian 08y - - Non-invasive ventilation and pyridostigmine treatment CMS breathing difficulty (HP:0002094), feeding difficulty (HP:0011968), ptosis (HP:0000508), right ophthalmoparesis (HP:0000597), facial weakness (HP:0010628), bulbar weakness (HP:0001283), proximal weakness upper limbs (HP:0008997), proximal weakness lower limbs (HP:0008994), distal weakness upper limbs (HP:0008959), distal weakness lower limbs (HP:0009053), axial weakness (HP:0003327), distal-joint laxity (HP:0002761), no contractures (-HP:0001371), spinal rigidity (HP:0003306), dysmorphic features (HP:0001999), lower-respiratory-tract infection (HP:0002783), chronic lung disease (HP:0006528), hiatus and diaphragmatic hernia (HP:0002036), recurrent chest infection (HP:0002783) COL13A1 COL13A1 1 1 Jamie Zeegers
00065266 - - - M ? - - - - - - CMS - AKD1 AKD1 1 1 Eric Law
00078891 - - family, 2 affecteds, 2 unaffecteds M yes Hong Kong - - - - - CMS unable to work due to general weakness AKD1, RAPSN AKD1, RAPSN 2 4 Chun Yiu Law
00152961 FamPat1 PubMed: Sine 1995 3-generation family, 5 affected (2F, 3M) F;M - Germany - - - - - CMS - CHRNA1 CHRNA1, CHRNB1, CHRND, CHRNE 5 5 Johan den Dunnen
00152962 - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y - - - CMS 8y-limb muscle weakness; 10y-scoliosis, able to walk 100 yards, cannot climb stairs unassisted; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early childhood CHRNA1 CHRNA1, CHRND, CHRNE 8 3 Johan den Dunnen
00152963 Pat1 PubMed: Croxen 1997 2-generation family, only affected child of 6 M - - - >34y - - - CMS facial/neck/upper limb weakness, slight difficulty chewing/swallowing, eye movements normal, wasting forearm/hand muscles, no AChR antibodies, single nerve stimuli did not elicit repetitive compound muscle, action potentials CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152964 Pat2 PubMed: Chauplannaz 1994 - F - France - >60y - - - CMS generalised weakness (sparing extraocular muscles), prominent wasting/weakness finger extensor muscles, atrophy cervical muscles, developed respiratory problems (diaphragmatic weakness), deterioration occurred, no AChR antibodies, single nerve stimuli elicited repetitive compound muscle action potentials CHRNA1 CHRNA1 1 2 Johan den Dunnen
00152965 Pat4/C1;Pat1 PubMed: Oosterhuis 1987, PubMed: Croxen 1997, PubMed: Boon 2022 3-generation family, 1 affected F - Netherlands - >28y - - - CMS see paper; ..., very extensive over 40 years; generalized myasthenic weakness, mild hand muscle wasting, no AChR antibodies, reacted adversely to anticholinesterase drugs; EMG repetitive muscle response single nerve stimulus CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152966 - PubMed: Milone 1997 - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152967 - PubMed: Wang 1999 - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152968 - PubMed: Wang 1999 - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152969 - PubMed: Beeson 2003 - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152970 - PubMed: Shen 2006 - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152973 - PubMed: Masuda 2008 - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152974 - - - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152975 - - - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152976 - - - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152977 - - - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152978 - - - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152979 - - - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152980 - - - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152981 - - - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152982 - PubMed: Giraud 2007 - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152983 - PubMed: Masuda 2008 - - - - - - - - - CMS - CHRNA1 CHRNA1 1 1 Johan den Dunnen
00152984 - PubMed: Engel 1996 2-generation family, affected boy M - United States - >16y - - - CMS 7y-intermittent episodes respiratory insufficiency requiring ventilatory support; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early infancy CHRNA1 CHRNA1, CHRNB1, CHRND, CHRNE 9 1 Johan den Dunnen
00152985 - PubMed: Ohno 1996 3-generation family, unaffected carrier parents/son F - Germany - - - - - CMS - CHRNA1 CHRNA1, CHRNE 8 1 Johan den Dunnen
00152986 - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - - - - CMS - CHRNA1 CHRNA1, CHRNB1, CHRND, CHRNE 9 2 Johan den Dunnen
00152987 - PubMed: Ohno 1997 2-generation family, 2 affected brothers M - - - - - - - CMS - CHRNA1 CHRNA1, CHRNB1, CHRND, CHRNE 6 2 Johan den Dunnen
00152988 - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y - - - CMS developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness CHRNA1 CHRNA1, CHRND, CHRNE 8 1 Johan den Dunnen
00152989 - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y - - - CMS myasthenic symptoms; 14y normal CHRNA1 CHRNA1, CHRND, CHRNE 8 1 Johan den Dunnen
00152991 Pat1 PubMed: Chauplannaz 1994 - F - - - >41y - - - CMS generalised weakness (sparing extraocular muscles), prominent wasting/weakness finger extensor muscles, deterioration months after pregnancy, no AChR antibodies AChR, single nerve stimuli elicited repetitive compound muscle action potentials; age onset infancy CHRNA1 CHRNA1 1 2 Johan den Dunnen
00152992 - - - - - Germany - - - - - CMS phenotype compatible with SCCMS CHRNA1 CHRNA1 1 1 Angela Abicht
00152993 - - 2-generation family, 2 affected brothers; family history suggesting autosomal dominant inheritance - - Germany - - - - - CMS phenotype compatible with SCCMS CHRNA1 CHRNA1 1 2 Angela Abicht
00152994 - PubMed: Sine 1995 - - - Germany - - - - - CMS - CHRNA1 CHRNA1, CHRND, CHRNE 4 1 Johan den Dunnen
00152995 - - - - - Germany - - - - - CMS - CHRNA1 CHRNA1 1 1 Angela Abicht
00152996 - - - - - Germany - - - - - CMS - CHRNA1 CHRNA1 1 1 Angela Abicht
00152997 - - - - - Germany - - - - - CMS - CHRNA1 CHRNA1 1 1 Angela Abicht
00153006 Pat3 PubMed: Croxen 1997 3-generation family, affected mother/daughter F - - - - - - - CMS - CHRNA1 CHRNA1 1 2 Johan den Dunnen
00153009 Pat2 PubMed: Croxen 1997 3-generation family, 3 affected (F, 2M) F;M - - - - - - - CMS - CHRNA1 CHRNA1 1 3 Johan den Dunnen
00153010 - - - F - United States - - - - - CMS global developmental delay, hypotonia, gait problems, weakness CHRNA1 CHRNA1 1 1 Tom Winder
00153035 - PubMed: Gomez 1996 2-generation family, unaffected parents/siblings - - United States - >32y - - - CMS 5y-walking; 8y-ophthalmoparesis; 10y-fatigability; 13y-contractures knee/hip; 13y-loss ambulation; positive edrophonium test CHRNB1 CHRNB1 1 1 Johan den Dunnen
00153036 - PubMed: Engel 1996 3-generation family, affected girl F - United States - >19y - - - CMS myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli CHRNB1 CHRNB1 1 1 Johan den Dunnen
00153037 - PubMed: Quiram 1999 2-generation family, affected girl and younger sister and brother F - - - >8y - - - CMS EMG decremental response on stimulation motor nerves, partial response to cholinesterase inhibitors CHRNB1 CHRNB1, CHRNE 7 3 Johan den Dunnen
00153039 - Gomez 1998 acc. to PubMed: Ohno 2003 - - - - - - - - - CMS - CHRNB1 - - 1 Johan den Dunnen
00153045 - PubMed: Mihaylova 2010, PubMed: Chaouch 2011 3-generation family, affected girl M no Portugal;Lebanon - >31y - - - CMS bulbar weakness, scapular winging, scoliosis, hand atrophy CHRNB1 CHRNB1 1 1 Johan den Dunnen
00153046 - PubMed: Chaouch 2011 daugther of 21822932-Pat09 F - Serbia - >47y - - - CMS phenotype compatible with adult onset SCCMS CHRNB1 CHRNB1 1 1 Angela Abicht
00153047 - PubMed: Chaouch 2011 mother of 21822932-Pat08 F - Serbia - >73y - - - CMS phenotype compatible with adult onset SCCMS CHRNB1 CHRNB1 1 1 Angela Abicht
00153048 - - found heterozygously in patient with no family history - - Germany - - - - - CMS phenotype compatible with early onset SCCMS CHRNB1 CHRNB1 1 1 Angela Abicht
00153049 - - - - - Germany - - - - - CMS - CHRNB1 CHRNB1 2 1 Angela Abicht
00153050 - - patient has unaffected carrier father - - Germany - - - - - CMS - CHRNB1 CHRNB1 2 1 Angela Abicht
00153052 - - - - - Germany - - - - - CMS - CHRNB1 CHRNB1 2 1 Angela Abicht
00153053 - - patient has unaffected carrier father - - Germany - - - - - CMS - CHRNB1 CHRNB1, DOK7 3 2 Angela Abicht
00153055 - - - - - Germany - - - - - CMS - CHRNB1 CHRNB1 2 1 Angela Abicht
00153056 - - patient has unaffected carrier father - - Germany - - - - - CMS - CHRNB1 CHRNB1 1 1 Angela Abicht
00153061 - - - M - United States - - - - - CMS - CHRNB1 CHRNB1 1 1 Tom Winder
00153063 - PubMed: Engel 1996 3-generation family, affected girl F - United States - >19y - - - CMS myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli CHRND CHRND, CHRNE 4 1 Johan den Dunnen
00153064 - PubMed: Brownlow 2001 2-generation family, unaffected carrier parents F - United Kingdom (Great Britain) - >6y - - - CMS - CHRND CHRND 2 1 Johan den Dunnen
00153065 - PubMed: Gomez 2002 - M - United States - >15y - - - CMS 9y-loss ambulation CHRND CHRND 1 1 Johan den Dunnen
00153066 - PubMed: Muller 2006 2-generation family, unaffected carrier parents and brother M - Germany - >7y - - - CMS post-partum difficulties feeding, sucking with frequent chokes; neonatal left-side eyelid ptosis, facial weakness, daytime-dependent abnormal fatigue, muscular hypotonia; motor development delayed CHRND CHRND 2 1 Angela Abicht
00153069 - PubMed: Shen 2008 similarly affected sibling died 11m F - United States - >20y - - - CMS no anti-AChR antibodies CHRND CHRND 3 1 Johan den Dunnen
00153070 - PubMed: Shen 2002 4-generation family, unaffected carrier parents/3 siblings M - Saudi Arabia - - - - - CMS - CHRND CHRND 2 1 Johan den Dunnen
00153071 - PubMed: Chaouch 2011 - - - Sweden - - - - - CMS - CHRND CHRND 1 1 Angela Abicht
00153072 - - homozygous in 3 affected siblings - - Germany - - - - - CMS early onset severe CMS with contractures CHRND CHRND 2 3 Angela Abicht
00153073 - PubMed: Engel 1996 - - - United States - - - - - CMS - CHRND CHRND 1 10 Johan den Dunnen
00153074 - PubMed: Shen 2002 2 cousins 3-generation family, unaffected carrier parents/4 siblings M - Saudi Arabia - - - - - CMS - CHRND CHRND 2 1 Johan den Dunnen
00153075 - PubMed: Shen 2002 2 cousins 3-generation family, unaffected carrier parents/4 siblings F - Saudi Arabia - - - - - CMS - CHRND CHRND 2 1 Johan den Dunnen
00153078 - PubMed: Shen 2002, OMIM:var0002 3-families, 13 unaffected family members patients - - Saudi Arabia - - - - - CMS - CHRND CHRND 1 13 Johan den Dunnen
00153083 - - - M - United States white - - - - CMS bilateral ptosis, strabismus, hyperlordosis, foot drop. CHRND CHRND 1 1 Tom Winder
00153084 - - - M - United States - - - - - CMS profound muscle weakness; ventilator-dependent since birth; improves with Mestinin CHRND CHRND 1 1 Tom Winder
00153087 - PubMed: Ohno 1995, OMIM:var0001 - F - - - - - - - CMS - CHRNE CHRNE 1 1 Johan den Dunnen
00153088 - PubMed: Gomez 1995, OMIM:var0002 - M - - - - - - - CMS - CHRNE CHRNE 1 1 Johan den Dunnen
00153089 - PubMed: Ohno 1996 - F - - - - - - - CMS - CHRNE CHRNE 1 1 Johan den Dunnen
00153090 - PubMed: Ohno 1996 2-generation family, affected brother/sister, unaffected carrier parents M - - - - - - - CMS - CHRNE CHRNE 4 1 Johan den Dunnen
00153091 - PubMed: Engel 1996 - - - - - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153092 - PubMed: Ohno 1997 3-generation family, 1 affected F - - - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153093 - PubMed: Milone 1998 - F - - - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153094 - PubMed: Croxen 1998 adopted - - - - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153095 - PubMed: Ohno 1998 - F yes Turkey - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153096 - PubMed: Ohno 1998 - F no Turkey - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153097 - PubMed: Ohno 1998 - F yes Turkey - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153098 - PubMed: Ohno 1998 - M yes Turkey - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153099 - PubMed: Nichols 1999 - - - - - - - - - CMS - CHRNE CHRNE 1 1 Johan den Dunnen
00153100 - PubMed: Middleton 1999 2-generation family, 1 affected M yes Turkey - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153101 - PubMed: Middleton 1999 - - yes Jordan - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153102 - PubMed: Middleton 1999 2-generation family, 4 affecteds - yes Jordan - - - - - CMS - CHRNE CHRNE 2 4 Johan den Dunnen
00153103 - PubMed: Middleton 1999 2-generation family, 1 affected M yes Turkey - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153104 - PubMed: Wang 2000 - M - - - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153105 - PubMed: Wang 2000 - M - - - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153106 - PubMed: Sieb 2000 - F - - white - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153107 - PubMed: Sieb 1997 Brother and sister affected - - Italy - - - - - CMS - CHRNE CHRNE 2 2 Johan den Dunnen
00153108 - PubMed: Slater 1997 - M yes (United Kingdom (Great Britain)) - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153109 - PubMed: Slater 1997 - M yes (United Kingdom (Great Britain)) - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153110 - PubMed: Croxen 2002 - F no - - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
00153111 - PubMed: Croxen 2002 a - F yes Bangladesh - - - - - CMS - CHRNE CHRNE 2 1 Johan den Dunnen
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