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CONGENITAL MYOPATHIES & WEAKNESS

CONGENITAL WEAKNESS
Absent muscles
Actin aggregate: ACTA1; 1q42
Apoptosis
Arthrogryposis (Club foot)
Autophagy, high: VMA21; Xq28 
Bethlem myopathy
  COL6A1: 21q22
  COL6A2: 21q22
  COL6A3: 2q37
  COL12A1: 6q13
Broad A band
Cap: TPM2; 9p13
Carey-Fineman-Ziter
Central core: RYR1; 19q13
Centronuclear (Myotubular)
CMH4: MYBPC3; 11p11
Congenital MD
Cytoplasmic Body (Spheroid)
Danon: LAMP2; Xq24
Diarrhea & Deafness
DOPA-responsive dystonia
Ehlers-Danlos: FKBP14; 7p14
EMARDD: MEGF10; 5q23
Fiber Type Size Δ (CFTD)
Fingerprint body
Focal
FSH dystrophy: 4q35
Hyaline body: MYH7; 14q11
 
IBM3: MYH2; 17p13
Lethal congenital: CNTN1; 12q11
Mallory body: SEPN1; 1p36
Mental retardation: CUL4B; Xq24
Metabolic disorders
Mitochondrial
Multicore (Minicore)
Myasthenic Syndromes
Myofibrillar
Myosin storage: MYH7; 14q11
Myotonic dystrophy 1: DMPK; 19q13
Native American: Stac3; 12q13
Nemaline rod
Neuropathic syndromes
Ophthalmoplegias
Perifascicular myopathy, neonatal
Reducing body: FHL1; Xq26
Sarcotubular (LGD 2H): TRIM32; 9q31
Skeletal disorders + Weakness
Spheroid body: MYOT; 5q31
Spindle excess: HRAS; 11p15
Tel Hashomer camptodactyly
Thin filaments, Excess: α-Actin; 1q42
Trilaminar myopathy
Type 1 fiber smallness
Williams-Beuren syndrome
Woods-Black-Norbury syndrome
Zebra body: α-Actin; 1q42
CONGENITAL MUSCULAR DYSTROPHY
Adducted thumbs & Ophthalmoplegia
Axons, Absent large myelinated & CNS Δ
Cerebellar atrophy
CMD + Cardiomyopathy: Titin; 2q24
Desmin inclusions: SEPN1; 1p36
Fukuyama: Fukutin; 9q31
Glycosylation disorders
Integrin α-7: 12q13
Joint Hyperlaxity: 3p23
Junct'l Epidermolysis Bullosa: Plec1; 8q24
Marinesco-Sjögren: SIL1; 5q31
Merosin (laminin α2-chain)
  Deficient (MDC1A): 6q22
  Normal: "Pure" form
Mitochondrial structural: CHKB; 22q13
Muscle-Eye-Brain Disorders
Muscle hypertrophy
  Mental retardation
  Respiratory failure (MDC1B): 1q42
  Muscles large (MDC1C): FKRP; 19q13
  Retardation (MDC1D): LARGE; 22q12
Myasthenic syndrome: DOK7; 4p16
Rigid spine with CMD
  SEPN1: 1p36
  Lamin A/C: 1q21
  SECISBP2: 9q22
  Other rigid spine syndromes
Santavuori (Finn): POMGnT1; 1p34
Telethonin: 17q12
 
Ullrich
  COL6A1; 21q22
  COL6A2; 21q22
  COL6A3; 2q37
  COL12A1: 6q13
Walker-Warburg (α-Dystroglycan Δ)
  MDDGA1: POMT1: 9q34
  MDDGA2: POMT2: 14q24
  MDDGA3: POMGnT1; 1p32
  MDDGA4: Fukutin: 9q31
  MDDGA5: FKRP; 19q13
  MDDGA6: LARGE: 22q12
  MDDGA7: ISPD: 7p21
  MDDGA8: GTDC2; 3p22
  MDDGA10: TMEM5; 12q14.2
  MDDGA11: B3GALNT2; 1q42
  MDDGA12: SGK196; 8p11
  MDDGA13: B3GNT1; 11q13
  MDDGA14: GMPPB; 3p21

General features
  α-Dystroglycan
  Other congenital weakness


Batten
ABSENT or WEAK
MUSCLES

Abdominal
Brachial plexus
Cardiofacial syndrome
Depressor anguli oris
Diaphragm
Extraocular muscles
  Blepharophimosis
  Congenital fibrosis
  Duane's syndrome
  Möbius syndrome
  Ptosis
  Superior rectus
Finger extensors
Holt-Oram
Palmaris longis
Pectoral
Peroneus tertius
Poland syndrome
Prune belly
Psoas (CHILD)
Thenar eminence
Trapezius



Congenital Weakness: General

  • Hypotonia: Clinical assessment
    • Traction response
      • Maneuver: Grasp child's hands; Pull to sitting position
      • Newborn: Head lags behind; Drops forward suddenly when upright posture is reached
      • Normal at 1 month: Minimal head lag; Flexion at the elbows, knees, and ankles
      • Premature infants < 33 weeks' gestation: Absent
    • Suspension: Vertical & Horizontal
    • Assessment of mother
      • History: Delayed walking or other motor functions; Skeletal or joint deformity
      • Strength
      • Myotonia
  • CNS disease is the most common cause of congenital hypotonia
  • Common features of presentation of Neuromuscular disorders in infants
    • Hypotonia
      • Posture with normal tone: Flexion at knees, hips, & elbows; Hips internally rotated
      • Posture with reduced tone: Head lag; Legs & arms extended
    • Weakness: Similar degrees in facial, appendicular, & axial muscles
    • Muscle mass: Reduced
    • Normal sensation
    • Skeletal disorders
  • The best defined neuromuscular causes of congenital weakness include
  • The diagnosis of syndromes with congenital weakness
    • Often based on morphological findings on muscle biopsy
    • Clinically distinctive congenital weakness syndromes



from A Kornberg MD

Central Core Disease ± Malignant Hyperthermia

  Ryanodine Receptor (RYR1; RyR) ; Chromosome 19q13.2; Dominant or Recessive

Genetics
RyR protein
Clinical
Laboratory
Pathology
Variants
  RyR syndromes
    Dominant
    Recessive
  Core syndromes
    MYH7
  Multicore/Minicore syndromes

Nemaline (Rod) Myopathies

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; Dom or Rec
  NEM4: β-tropomyosin(TPM2); 9p13; Dom or Rec
  NEM5: Troponin T1 (TNNT1); 19q13; Recessive
  NEM6: KBTBD13; 15q22; Dominant
  NEM7: Cofilin-2 (CFN2); 14q13; Recessive
  NEM8: KLHL40; 3p22; Recessive
  NEM9: KLHL41; 2q31; Recessive
  NEM: Ryanodine receptor (Ryr1); 19q13
    Rods + Cores: Dominant
    Rods + Ophthalmoplegia: Recessive
  Also
    Pyruvate carboxylase deficiency
    Rod myopathy, mild

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


Rod myopathies: General features 22

ROD MYOPATHIES: Specific syndromes


NEM1 Rod myopathy
  α-Tropomyosin 3 (TPM3)
; Chromosome 1q21.3; Dominant or Recessive


NEM2 Rod myopathy
  Nebulin (NEB)
; Chromosome 2q23.3; Recessive


NEM3 Rod myopathy
  α-Actin (ACTA1; Skeletal muscle)
; Chromosome 1q42.13; Dominant or Sporadic, Recessive

NEM4 Rod myopathy
  β-Tropomyosin (TPM2)
; Chromosome 9p13.3; Dominant or Recessive


NEM5 Rod myopathy 13
  Troponin T1 (Skeletal, Slow; TNNT1)
; Chromosome 19q13.42; Recessive

NEM6 Rod myopathy with Slow movements 27
  Kelch-repeat and BTB (POZ) domain containing 13 (KBTBD13) ; Chromosome 15q22.31; Dominant

NEM7 Rod myopathy 65
  Cofilin-2 (CFL2) ; Chromosome 14q13.1; Recessive

NEM8 Nemaline Rod myopathy, severe 107
  Kelch-like family member 40 (KLHL40; KBTBD5; Sarcosynapsin; SYRP) ; Chromosome 3p22.1; Recessive

NEM9: Nemaline Rod myopathy 9 111
  Kelch-like family member 41 (KLHL41; KBTBD10) ; Chromosome 2q31.1; Recessive

Rod myopathy: Mild 64
  Dominant

Rod myopathy: Other forms

Centronuclear (Myotubular) Myopathy 89

Types
  Dominant
    CNM: Dynamin 2; 19p13
      CNM modifier: MTMR14
    CNM3: MYF6; 12q21
    CNM4: CCDC78; 16p13
  Recessive
    CNM2: BIN1: 2q14
    CNM: RYR1: 19q13
    CNM: TTN; 2q31
    Canine (Labrador): PTPLA
  X-linked
    CNMX: MTM1; Xq28
      Carriers
  Differential diagnosis
    Myotonic dystrophy 1, Congenital
Pathology

Congenital Muscular Dystrophy: Typical Features


Fukuyama congenital muscular dystrophy (MDDGA4)

  Fukutin (FKTN) ; Chromosome 9q31.2; Recessive


Congenital muscular dystrophy: Merosin (laminin α2-chain) deficient

  Laminin α2 ; Chromosome 6q22.33; Recessive




CMD: Normal merosin

Normal Merosin: "Pure" form of congenital MD

  Recessive

Congenital MD with integrin α-7 mutations

  Integrin α-7 (ITGA7) ; Chromosome 12q13.2; Recessive

Congenital MD with Joint Hyperlaxity63

  ? Integrin-α9 (ITGA9) ; Chromosome 3p22.2; Recessive

Congenital MD with CNS atrophy & Absent large myelinated peripheral nerve axons

  Recessive

Congenital MD with cerebellar atrophy

  ? Autosomal recessive

Muscle-Eye-Brain Disorders 19

Fukuyama
Muscle-eye-brain disease (Santavuori)
Walker-Warburg

Congenital Muscular Dystrophy with Familial Junctional Epidermolysis Bullosa

  Plectin (Plec1) ; Chromosome 8q24.3; Recessive

Congenital muscular dystrophy with Mitochondrial Structural Abnormalities (Megaconial) (MDCMC) 2

  Choline kinase beta (CHKB) ; Chromosome 22q13.33; Recessive

From D Cummings MD
Congenital MD + Rigid Spine

Congenital muscular dystrophy with early Spine Rigidity

  Selenoprotein N, 1 (SEPN1) ; Chromosome 1p36.11; Recessive
  Recessive

Congenital muscular dystrophy with respiratory failure & muscle hypertrophy (CMD1B; MDC1B) 7

  Chromosome 1q42; Recessive

Early-onset Myopathy with Areflexia, Respiratory Distress & Dysphagia (EMARDD) 87

  Multiple epidermal growth factor-like domains 10 (MEGF10) ; Chromosome 5q23.2; Recessive

Congenital Muscular Dystrophy with Muscle hypertrophy (MDC1C; MDDGB5) 16,26

  Fukutin-related protein (FKRP) ; Chromosome 19q13.32; Recessive

Scleroatonic muscular dystrophy (Ullrich) 21

  Collagen, type VI, subunit α1 (COL6A1) ; Chromosome 21q22.3; Recessive or Dominant
  Collagen, type VI, subunit α2 (COL6A2) ; Chromosome 21q22.3; Recessive or Dominant
  Collagen, type VI, subunit α3 (COL6A3) ; Chromosome 2q37.3; Recessive or Dominant

Congenital Muscular Dystrophy with Mental Retardation & Abnormal Glycosylation (MDDGA6; MDC1D) 43

  LARGE (Acetylglucosaminyltransferase-like protein) ; Chromosome 22q12.3; Recessive

Congenital Muscular Dystrophy with Adducted Thumbs, Ophthalmoplegia & Mental retardation 34

  Autosomal Recessive

Congenital muscular dystrophy & myasthenic syndrome 55

  DOK7 ; Chromosome 4p16.3; Recessive

OTHER CONGENITAL WEAKNESS

Congenital Myotonic Dystrophy
  Myotonin protein kinase; Chromosome 19; Dominant Congenital Facioscapulohumeral (FSH) Dystrophy
  Chromosome 4q35; Dominant Metabolic Myopathies Congenital Myasthenic Syndromes

Congenital Neuropathic Syndromes Rule out CNS hypotonia


Broad A band disease


Trilaminar myopathy


Zebra body myopathy

  α-Actin (ACTA1; Skeletal muscle) ; Chromosome 1q42.13; Sporadic

Weakness with early skeletal disorders


Williams-Beuren syndrome

  Autosomal dominant contiguous gene syndrome; Chromosome 7q11.23
  Deleted genes: Elastin ; RFC2 ; LIM-kinase ; GTF3 muscle transcription factor (MusTRD1); GTF2I

Neonatal perifascicular myopathy1


Immunoneurologic Disorder (Woods-Black-Norbury Syndrome)

  Dominant; Chromosome Xq26-qter

Congenital absence, weakness, or hypoplasia of muscles

Extraocular muscles
  Axenfeld-Rieger
  Blepharophimosis
  Congenital fibrosis
    CFEOM1: KIF21A; 12q12
    CFEOM2: PHOX2A; 11q13
    CFEOM3: TUBB3; 16q24
    CFEOM + Polymicrogyria: TUBB2B; 6p25
    CFEOM + Ulnar hand Δ: 21qter
  Duane's syndrome
    DURS1: 8q13
    DURS2: CHN1; 2q31
    DURRS: SALL4; 20q13
    BSAS: HOXA1; 7p15
    Navajo: HOXA1; 7p15
  Möbius syndrome
  Ptosis
  + Scoliosis: ROBO3; 11q24
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

Extraocular muscles


Face

Depressor anguli oris: Cardiofacial syndrome
  Chromosome 22q11.2 (deletion) Dominant; Also Multifactorial

Also see: Congenital facial paresis



Absent Muscles of Mastication: Mouse model

Diaphragm Weakness 78



Hands

Holt-Oram Syndrome
  Human transcription factor TBX5 ; Chromosome 12q24.21; Dominant
Palmaris longus muscle
  Autosomal dominant with incomplete penetrance Finger & thumb extensors
  Autosomal Recessive


From: P Bailey

Dextrocardia
Poland Syndrome

Trunk

Pectoral (Poland syndrome)

  Usually sporadic
Trapezius
  Chromosome 8q12.2-q21.2; Dominant Superior transverse scapular ligament: Calcification
  Autosomal Dominant
Abdominal musculature: Prune belly syndrome
  Cholinergic receptor, muscarinic, 3 (CHRM3) ; Chromosome 1q43; Recessive & Sporadic

Legs

Peroneus tertius muscle
  Autosomal recessive

Psoas (CHILD Syndrome)
  NAD(P)H Steroid dehydrogenase-like protein ; Chromosome Xq28; Dominant
  Emopamil-binding protein ; Chromosome Xq28; Dominant



Multicore (Minicore) Myopathy 12

General

ACADS: 12q24
Arthrogryposis
CCDC78: 16p13
Hypogonadism
MEGF10: 5q23
MYH7: 14q11
Ophthalmoplegia
RYR1: 19q13
SECISBP2: 9q22
SEPN1: 1p36
Titin: 2q31

Multicores


Multicore myopathy: General Clinical Features
Multicore (Minicore) Disease
  Selenoprotein N, 1 (SEPN1) ; Chromosome 1p36.11; Recessive or Sporadic

Minicore myopathy with Ophthalmoplegia
Minicore myopathy: Antenatal onset with Arthrogryposis 33
Multicore myopathy: Mental retardation, Short stature & Hypogonadotropic hypogonadism (Chudley syndrome)
Multicore disease: Congenital myopathy + Fatal dilated cardiomyopathy (EOMFC)
  Titin ; Chromosome 2q31.2; Recessive

Congenital myopathy with Internal nuclei & Atypical Cores (Centronuclear myopathy 4 (CNM4) 93
  Coiled-coil domain-containing protein 78 (CCDC78) ; Chromosome 16p13.3; Dominant


Congenital myopathy with excess of thin filaments 5

α-Actin (ACTA1; Skeletal muscle) ; Chromosome 1q42.13; Sporadic

Carey-Fineman-Ziter Syndrome

  Autosomal Recessive

Reducing Body Myopathies3,4

  Four-and-a-half-LIM protein 1 (FHL1) ; Chromosome Xq26.3; Dominant or Semi-Dominant

Fingerprint Body Myopathy


Congenital myopathy with apoptotic changes9



Hyaline Body Myopathies

MYH7: 14q11.2.; Dominant
Scapuloperoneal
  1: FHL1; Xq26; Dominant
  2: MYH7; 14q22; Dominant
  3: 3p22; Recessive


Hyaline Body Myopathy (Myosin Storage) 44
  Myosin - Cardiac β heavy chain (MYH7) ; Chromosome 14q11.2; Sporadic or Dominant Hyaline body myopathy: Adult onset, Scapuloperoneal Type 1
  FHL1; Chromosome Xq26; Dominant

Hyaline body myopathy: Adult onset, Scapuloperoneal Type 2
  Autosomal Dominant

Hyaline body myopathy: Scapuloperoneal Type 3
  Chromosome 3p22.2–p21.32; Recessive



Congenital Myopathy with Muscle Spindle Excess (Costello syndrome) 18

  V-HA-RAS Harvey rat sarcoma viral oncogene homolog (HRAS) ; Chromosome 11p15.5; Recessive


Congenital Myopathy with Caps 57

β-Tropomyosin 2 (TPM2): 9p13; Dominant
γ-Tropomyosin 3 (TPM3): 1q22; Dominant
α-Actin 1, Skeletal muscle (ACTA1): 1q42; Dominant
Recessive

Also see: Myofibrillar (Desmin storage) myopathy


Cap Myopathy: TPM2 mutations
  β-Tropomyosin 2 (TPM2) ; Chromosome 9p13.3; Dominant


X-linked Mental retardation syndrome (Cabezas) 14

  Cullin 4B (CUL4B) ; Chromosome Xq24; Recessive

Congenital Weakness with Diarrhea & Deafness

  Recessive

Congenital Fiber Type Size Disproportion (Type I fibers small) 51

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
Pathology


Multisystem Selenoprotein Deficiency 83

  Selenocysteine insertion sequence–binding protein 2 (SECISBP2; SBP2) ; Chromosome 9q22.2; Recessive

Ehlers-Danlos, Variant with progressive Kyphoscoliosis, Myopathy & Hearing loss (EDSKMH) 90

  Peptidyl-prolyl cis-trans isomerase 14 (FK506-binding protein 14; FKBP14) ; Chromosome 7p14.3; Recessive
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4/15/2014