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Muscle NMJ Nerve Spinal Ataxia Antibody & Biopsy Patient Information |
Congenital Weakness: General
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RYR1 Genetics RyR protein Clinical Laboratory Pathology Variants RyR clinical syndromes Dominant (CMYP1A) 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 Type 1 fiber predominance (No cores) Congenital (CNMDU1) Hypotonia, Benign Axial myopathy, Adult onset Serum CK high: Asymptomatic Recessive (CMYP1B) Dusty Core 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 Hypotonia & Cardiac Periodic Paralysis |
Multicore/Minicore RYR1 SEPN1 ACTN2 CCDC78 FXR1 MYH2 MEGF10 TTN Core-Rod RYR1 NEB ACTA1 KBTBD13 (NEM6) CFL2 (NEM7) TRIP4 TNNT1 Cores: Other MYH7 Myopathy + Myofibril Δ: PYROXD1 Eccentric core: UNC45B |
![]() NADH Stain |
Excitation-Contraction Coupling: Muscle |
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Rods: General Clinical features: General Laboratory features: General Pathology Rods: Hereditary 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; Dom or Rec 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 NEM + Cardiac: CAP2; 6p22; Recessive Arthrogryposis (DA2B2): TNNT3; 11p15 MPD5: ADSSL1; 14q32 Also Cap myopathy CFTD Filamin C Klippel Feil 4: MYO18B MFM7 Myopathy with Myofibril Δ: PYROXD1 Pyruvate carboxylase deficiency Rod myopathy, mild Rods + Filaments: MYH2; 17p13 Zebra body |
Rods + Cores ACTA1 NEB KBTBD13 CFL2 RYR1 TRIP4 TNNT1 Rods: Sporadic disorders Infant onset myopathy Adult onset myopathy (SLONM) HIV rod myopathy 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 (MAP3K20): 2q31 CNM: RYR1: 19q13 CNM: TTN; 2q31 CNM: GLDN; 15q21 Canine (Lab): PTPLA Canine (Lab & Springer): EHBP1L1 X-linked CNMX: MTM1; Xq28 Carriers Mouse CNM in type 2 fibers: SRPK3-null Differential diagnosis Myotonic dystrophy 1, Congenital Pathology |
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Genetics MTM1 protein Clinical Laboratory Female carriers PIP Phosphatase disorders |
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Normal Merosin: "Pure" form of congenital MD● Recessive
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Fukuyama Muscle-eye-brain disease (Santavuori) Walker-Warburg |
Congenital Muscular Dystrophy with early Spine Rigidity (RSMD1; CMYP3)
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Selenoprotein N, 1 (SEPN1; SELENON)
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![]() From: A Connolly MD Hyperkeratosis pilari
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Congenital Cranial Dysinnervation (CCDD) Extraocular muscles Axenfeld-Rieger Blepharophimosis CCDD: ECEL1; 2q37 CCDD: COLA25A1; 4q25 Congenital fibrosis Duane retraction syndromes (DRS) Holt-Oram: TBX5 Möbius syndrome (MBS) Ptosis + Scoliosis HGPPS1: ROBO3; 11q24 HGPPS2: DCC; 18q21 |
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 CFEOM: MYF5; 12q21 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 |
Pectoral (Poland syndrome)
![]() ● Usually sporadic
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![]() Osler 1901 |
General Pathology ACADS: 12q24 ACTN2: 1q42 Arthrogryposis CCDC78: 16p13 Hypogonadism MEGF10: 5q23 MYH2: 17p13 MYH7: 14q11 Ophthalmoplegia RYR1: 19q13 SECISBP2: 9q22 Selenon: 1p36 Titin: 2q31 UNC45B: 17q12 Cores |
![]() Multicores
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MYH7: 14q11.2 MSMA: Dominant MSMB (Scapuloperoneal 3): Recessive Scapuloperoneal 2: Dominant Scapuloperoneal 1: FHL1; Xq26; Dominant |
Genetics: General Mutations in some of same genes that produce Rod myopathies & CFTD 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 TRIP4: 15q22 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 CFTD: Lamin A/C Myopathy SCN4A: 17q23; Recessive Titin: 2q31; Recessive Also see: Fiber type predominance RYR1 (Type 1) Pathology |