Neuromuscular

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MYOPATHIES & NEURONOPATHIES
  WITH NO EOM WEAKNESS ± FACE & PERIOCULAR INVOLVEMENT

Myotonic Dystrophy
Facioscapulohumeral dystrophy
Scapuloperoneal syndromes
Other myopathies

FSH dystrophy: Asymmetric triangular shoulders



MYOTONIC DYSTROPHY

Genetic loci
Differential diagnosis: DM1 vs DM2

Myotonic dystrophy 1 (DM 1)
  Clinical features
  Disease mechanisms
  Epidemiology
  Genetic testing
  Laboratory features
  Myotonin protein kinase (DMPK)
    Gene
    Protein
  Pathology

DM 2 (PROMM)
  Pathology

Also see: Gene Reviews

Myotonic dystrophy
Weakness of face & sternomastoids
Batten & Gibb Brain 1909;32:187-205

Rossolimo "De la myotonie atrophique" 1902

Myotonic Dystrophy: General



Myotonic Dystrophy 1 (DM1)

  Myotonin protein kinase (DMPK) ; Chromosome 19q13.32; Dominant
Clinical features
  Comparison to DM2
  Congenital
  General
  Onset
  Myotonia
  Neural
  Prognosis
  Systemic
  Weakness
Disease mechanisms
Epidemiology
Genetic testing
Laboratory features
Muscle pathology
Myotonin protein kinase (DMPK)
  Genetic & Molecular
    CTG repeats
    Disease mechanisms
    Generation effects: Anticipation
  Protein

Also see: Gene Reviews
DM1 Gene Locus

5'
DM1 gene locus
3'

From: Neil Miller, Johns Hopkins
Christmas Tree Cataracts

Rossolimo "De la myotonie atrophique" 1902
Distal wasting; Wrist drop




Myotonic Dystrophy, Type 3 (DM3)16
  Identified as IBMPFD



FACIOSCAPULOHUMERAL (FSH) DYSTROPHY

FSH 1A: DUX4; 4q35
  Clinical features
  Clinical correlations
  DUX4 protein
  Epidemiology
  Genetics
  Laboratory
  FSH Variants
    Infantile FSH 1A
    FSHD1
    Bent spine
Digenic: DUX4 +
  FSHD2: SMCHD1; 18p11
  FSHD: DNMT3B; 20q11
FSHD: D4Z4 deletion; 10qter

FSH Differential Dx
  non 4q35 FSH
    FSH 1B
    Mitochondrial
    Scapuloperoneal
    VCP

External link
  Gene reviews

FSH Dystrophy
  

NLM
Louis Théophile Joseph Landouzy

NLM
Joseph Jules Dejerine


FACIOSCAPULOHUMERAL (FSH) DYSTROPHY 1A (FSHMD 1A)

  Double homeobox protein 4 (DUX4) (D4Z4 repeat DNA deletion); Chromosome 4q35.2; Dominant
  Double homeobox protein 4 (DUX4) (D4Z4 repeat DNA deletion); Chromosome 10qter; Dominant

FSH mechanisms
Transcriptional misregulation of neighboring genes8

  FSHMD1B: Autosomal Dominant

SCAPULOPERONEAL SYNDROMES: Without 4q35 linkage, ± Facial weakness

ACTA1: 1q42; Dominant
Centronuclear myopathy (Adult-onset): MYF6; 12q21; Dominant
Davidenkow's syndrome
Emery-Dreifuss Dystrophies
FSHD with ragged red fibers & cardiomyopathy
Glycogen storage
  Acid maltase deficiency with scapuloperoneal weakness
  Phosphorylase deficiency (McArdles)
Kaeser: Desmin; 2q35
LGMD2A: Calpain 3; 15q15
Mitochondrial
Myopathy + Paget's disease of bone
  with Dementia: VCP; 9p13
  Type 2
Reducing body myopathy (Adult onset): FHL1; Xq26
Retardation & Cardiomyopathy: LAMP-2; Xq24
Scapuloperoneal MD (SPMD) with Hyaline bodies
  Type 1: FHL1; Xq26; Dominant
  Type 2: MYH7; 14q12; Dominant
  Type 3: MYH7; 14q12; Recessive
  Myosin storage myopathy: MYH7; 14q12
Scapuloperoneal neuronopathy: TRPV4; 12q24

Also see: Absent muscles; Holt-Oram; FSH

FHL1 mutations: Common features
Scapular winging
Joint contractures
Rigid spine
Respiratory weakness
Cardiomyopathy
Reducing bodies
FHL1 levels: Reduced
  Except: Reducing body myopathy
Other myopathies
Facioscapulohumeral muscular dystrophy gene testing

University of Iowa Hospitals & Clinics
200 Hawkins Drive
Microbiology Laboratory
BT 6004 GH
Iowa City, Iowa 52242-1009
319-356-2591
Fax: 319-384-9854

10 ml Lavender top (EDTA) tube

Return to Limb-Girdle dystrophies
Return to Myopathy & NMJ Index

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5/8/2016