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Muscle NMJ Nerve Spinal Ataxia Antibody & Biopsy Patient Information |
Congenital Weakness: General
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![]() from A Kornberg MD |
Genetics RyR protein Clinical Laboratory Pathology Variants RyR clinical syndromes Dominant Central core diseases Congenital myopathy Cores, Rods & Malignant Hyperthermia Limb-Girdle Syndrome: Onset in teens Minicores, Transient Fetal akinesia Malignant Hyperthermia: Onset in teens King-Denborough Syndrome High serum CK: Asymptomatic Congenital + Type 1 fibers (CNMDU1) Axial myopathy, Adult onset Recessive Central core diseases Minicores, Transient Fetal akinesia Mild phenotype & Recessive inheritance Samaritan myopathy Nemaline rods + External ophthalmoplegia Congenital myopathy Centronuclear myopathy Fatigable weakness Focal lost striations Core syndromes: Other MYH7 ACTA1 Myopathy with Myofibril Δ: PYROXD1 Multicore/Minicore syndromes |
![]() NADH Stain |
Clinical features: General Laboratory features: General Pathology Hereditary Types NEM1: α-tropomyosin 3 (TPM3); 1q21; Dom or Rec NEM2: Nebulin (NEB); 2q23; Recessive NEM3: α-Actin (ACTA1); 1q42 Dominant Recessive NEM4: β-tropomyosin(TPM2); 9p13; Dom or Rec NEM5: Troponin T1 (TNNT1); 19q13; Recessive NEM6: KBTBD13; 15q22; Dominant NEM7: Cofilin-2 (CFL2); 14q13; Recessive NEM8: KLHL40; 3p22; Recessive NEM9: KLHL41; 2q31; Recessive NEM10: LMOD3; 3p14; Recessive NEM11: MYPN; 10q21; Recessive NEM: Ryanodine receptor (Ryr1); 19q13 Rods + Cores: Dominant Rods + Ophthalmoplegia: Recessive NEM: RYR3; 15q13; Recessive Also Cap myopathy CFTD Klippel Feil 4: MYO18B Myopathy with Myofibril Δ: PYROXD1 Pyruvate carboxylase deficiency Rod myopathy, mild Zebra body Sporadic disorders with rods Infant onset myopathy Adult onset myopathy HIV rod myopathy Target fibers (Acute Denervation) |
Rod myopathy: Distal weakness & contractures![]() ![]() From A Connolly |
Types Dominant CNM1: Dynamin 2; 19p13 CNM modifier: MTMR14 CNM3: MYF6; 12q21 CNM4: CCDC78; 16p13 CNM: BIN1: 2q14 Recessive CNM2: BIN1: 2q14 CNM5 (+ DCM): SPEG; 2q35 CNM6: ZAK: 2q31 CNM: RYR1: 19q13 CNM: TTN; 2q31 CNM: GLDN; 15q21 Canine (Labrador): PTPLA X-linked CNMX: MTM1; Xq28 Carriers Differential diagnosis Myotonic dystrophy 1, Congenital Pathology |
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![]() Pectoral folds (Arrow) with severe shoulder weakness |
![]() ![]() CMD: Normal merosin |
Fukuyama Muscle-eye-brain disease (Santavuori) Walker-Warburg |
![]() ![]() From D Cummings MD |
Congenital MD + Rigid Spine |
![]() From: A Connolly MD Hyperkeratosis pilari
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Congenital Cranial Dysinnervation (CCDD) Extraocular muscles Axenfeld-Rieger Blepharophimosis Congenital fibrosis Duane retraction syndromes (DRS) Möbius syndrome (MBS) Ptosis + Scoliosis HGPPS1: ROBO3; 11q24 HGPPS2: DCC; 18q21 CCDD: ECEL1; 2q37 CCDD: COLA25A1; 4q25 |
Face Cardiofacial syndrome Depressor anguli oris Mastication Möbius syndrome Hands Finger extensors Holt-Oram Palmaris longis Thenar eminence Legs Peroneus tertius Psoas (CHILD) Trunk Abdominal Brachial plexus Diaphragm Pectoral Poland syndrome Prune belly Trapezius |
CFEOM1: KIF21A; 12q12 CFEOM2: PHOX2A; 11q13 CFEOM3: TUBB3; 16q24 CFEOM4 (Tukel): 21qter CFEOM5: COL25A1; 4q25 CFEOM + Polymicrogyria: TUBB2B; 6p25 Also see: Duane retraction syndromes (DRS) |
General DURS1: 8q13 DURS2: CHN1; 2q31 DURS3: MAFB; 20q12 DRRS (Okihiro): SALL4; 20q13 BSAS: HOXA1; 7p15 Navajo: HOXA1; 7p15 DA5E: PIEZO2; 18p11 CCDD: COLA25A1; 4q25 Other DURS-like syndromes |
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Duane-like phenomenon in patient diagnosed as chronic ocular myasthenia gravis.
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![]() Bramwell 1907 |
![]() Bramwell 1907 |
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![]() From: P Bailey |
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![]() Dextrocardia |
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Poland Syndrome |
![]() Osler 1901 |
General ACADS: 12q24 Arthrogryposis CCDC78: 16p13 Hypogonadism MEGF10: 5q23 MYH7: 14q11 Ophthalmoplegia RYR1: 19q13 SECISBP2: 9q22 SEPN1: 1p36 Titin: 2q31 |
![]() Multicores
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MYH7: 14q11.2 MSMA: Dominant MSMB (Scapuloperoneal 3): Recessive Scapuloperoneal 2: Dominant Scapuloperoneal 1: FHL1; Xq26; Dominant |
Dominant 1: γ-Tropomyosin 3 (TPM3): 1q22 2: β-Tropomyosin 2 (TPM2): 9p13 α-Actin 1, Skeletal muscle (ACTA1): 1q42 Recessive Nebulin: 2q23 Myopalladin: 10q21 Muscle Pathology Also see Myofibrillar (Desmin storage) myopathy Cap pathology |
Differential diagnosis General CFTD 1: α-Actin: 1q42; Dominant CFTD 2: Xq13; Recessive CFTD 3: SEPN1: 1p36; Recessive CFTD 4: TPM3; 1q21; Dominant CFTD 5: TPM2; 9p13; Dominant CFTD: MYL2; 12q24; Recessive CFTD: HACD1 (PTPLA); 10p12; Recessive CFTD: MYH7; 14q11; Dominant CFTD: MYL2; 12q24; Recessive Myopathy SCN4A: 17q23; Recessive Titin: 2q31; Recessive Pathology |