Neuromuscular

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MUSCLE FIBER ACTIVITY & CRAMPS

Brody's syndrome
Complex repetitive discharges
Contracture: Muscle
Cramps
  Cramp-fasciculation
  Dominant
  Electrically silent
  Familial
Electrical activity: No clinical change
Endplate Spikes
Fasciculations
Fibrillations
Hyper K+ periodic paralysis
Miniature endplate potential
Minipolymyoclonus
Muscle pain
Muscle spasms
Myoedema
Myokymia
  Diffuse: Isaac's Syndrome
  Hereditary
  Localized: Radiation
Myopathy
Myotonic dystrophies
Neural origin
Neuromyotonia
Paramyotonia
Periodic paralyses
Positive sharp waves
Rippling muscles
Satoyoshi Syndrome
Schwartz-Jampel
Spinal stenosis
Stiffman syndrome
Tetanus
Myotonia

Comparative features
General features
Ion channels

Acquired
Chondrodystrophic: 1p34
Congenita
  Acetazolamide-responsive: Na+
  Becker's (Recessive): Cl-
  Thomsen's (Dominant): Cl-
Dystrophy
  Type I (DM1): 19q13
  Type II (DM2; PROMM): 3q21
Fluctuans: Na+
Levior: Cl-
Paramyotonia: Na+; Cl-
Permanens: Na+
Neural origin
Amyotrophic Lateral Sclerosis
Black widow spider
Blepharospasm
Complex repetitive discharges
Crisponi syndrome
Dystonia variants
Fasciculations
Geniospasm
Hemifacial spasm
Isaac's Syndrome
Motor neuron disorders
Motor neuropathies
Myokymia
Neuromyotonia
Palmaris brevis spasm
Polyneuropathy
Spinal:
  Vascular; Compression
Startle syndrome (Hyperekplexia)
Strychnine
Stiffman Syndrome
Superior oblique myokymia
Tetanus
Tetany
Tremor
Whipple's



Myotonia

Comparative features
General features

Acquired
Chondrodystrophic: Perlecan; 1p34
Congenita
  Acetazolamide-responsive: Na+
  Becker's (Recessive): Cl-
  Thomsen's (Dominant): Cl-
Dystrophy
  Type I (DM1): 19q13
  Type II (DM2; PROMM): 3q21
  Type III (DM3): 15q21
Fluctuans: Na+
Levior: Cl-
Paramyotonia: Na+; Cl-
Permanens: Na+
Potassium activated myotonia: Na
Proximal Myopathy (PROMM): 3q21


General features of myotonia


Myotonia Congenita (Thomsen)

  Muscle Chloride Channel (CLCN1) ; Chromosome 7q34; Dominant


Myotonia Congenita (Becker)

  Muscle Chloride Channel (CLCN1) ; Chromosome 7q34; Recessive


Myotonia levior

  Muscle Chloride Channel (CLCN1); Chromosome 7q34; Dominant


Paramyotonia syndromes

  Sodium Channel - α subunit (SCN4A) ; Chromosome 17q23.3; Dominant
  Muscle Chloride Channel (CLCN1) ; Chromosome 7q34; Dominant


Myotonia Fluctuans

  Sodium Channel - α subunit (SCN4A; Nav1.4) ; Chromosome 17q23.3; Dominant

Myotonia Permanens

  Sodium Channel - α subunit (SCN4A; Nav1.4) ; Chromosome 17q23.3; Dominant or Sporadic


Acetazolamide-responsive Myotonia Congenita

  Sodium Channel - α subunit (Ile1160Val) (SCN4A) ; Chromosome 17q23.3; Dominant

Myotonic Dystrophy (DM1)

  Myotonin protein kinase; Chromosome 19; Dominant


Proximal Myotonic Myopathy (PROMM; DM2)

  Zinc finger protein 9 (ZNF9) ; Chromosome 3q21.3; Dominant

PROMM

  Locus not linked to 3q21; Autosomal Dominant

Acquired myotonia: Drug toxicity


Hyperkalemic periodic paralysis

Andersen: KCNJ2; 17q24
K+ channel: KCNE3; 11q13
Na+ channel: SCN4A; 17q23


  Sodium Channel - α subunit (SCN4A) ; Chromosome 17q23.3; Dominant

  Andersen's syndrome: K+ sensitive periodic paralysis with Cardiac dysrhythmias & Dysmorphic features


Rippling Muscle Syndromes17

Acquired
Hereditary
  Dominant
    RMD1: 1q41
    RMD2: Caveolin-3; 3p25
    Lipodystrophy (CGL4): Cavin; 17q21
  Recessive
    Omani
    RMR: Caveolin-3; 3p25


Rippling Muscle Syndromes: Hereditary, Dominant
  RMD1 : Chromosome 1q41; Dominant
  RMD2 : Caveolin-3 ; Chromosome 3p25.3; Dominant
  ? Other loci; Dominant 9

Rippling Muscle Syndromes: Hereditary, Recessive14

Rippling Muscles, Recessive
  Recessive Rippling Muscles, Recessive
  Caveolin-3 ; Chromosome 3p25.3; Recessive or More severe dominant

Rippling Muscle Syndrome, Sporadic3

Schwartz-Jampel Syndrome (Chondrodystrophic myotonia) 24

  Perlecan ; Chromosome 1p36.12; Recessive

Schwartz-Jampel Type 2/Stuve-Wiedemann syndrome (SWS)26

  Leukemia Inhibitory Factor Receptor (LIFR) ; Chromosome 5p13.1; Recessive

Brody disease

  Ca++ ATPase (ATP2A1) ; Chromosome 16p11.2; Recessive


Myokymia & Benign Neonatal Epilepsy 13

  KCNQ2 ; Chromosome 20q13.33; Dominant

Myoedema


Muscle Spasms & Dwarfism

Familial Muscle Spasms & Dwarfism
  Recessive; ? Autosomal or X-linked
Satoyoshi Syndrome 36
Schwartz-Jampel

Cramps


Electrical activity with few clinical manifestations


Electrically silent cramps


Muscle Activity: Neural origin

Amyotrophic Lateral Sclerosis
Black widow spider
Blepharospasm
Complex repetitive discharges
Dystonia variants
Fasciculations
Geniospasm
Isaac's Syndrome
Motor neuropathies & neuron disorders
Myokymia
Neuromyotonia
Polyneuropathy
Startle syndrome (Hyperekplexia)
Stiffman Syndrome
Tetanus
Tetany
Tremor
Whipple's


Tetanus 20

Clinical features
Clostridium tetani
Diagnosis
Epidemiology
Mechanism of action
Prophylaxis
Protein structure
Treatment

History
  Case description

Putnam

C Bell 1865: From NLM



Isaac's Syndrome

Associated disorders
Clinical
Differential diagnosis
EMG
Laboratory



Familial Dyskinesia & Facial Myokymia 10

  Adenylate cyclase 5 (ADCY5) ; Chromosome 3q21.1; Dominant

Stiffman (Stiffperson) syndrome

Antibodies
Associated disorders
Clinical features
Laboratory
Treatment
Variants


Clinical features7 Associated disorders Laboratory Disease mechanisms Antibodies Therapy (Rarely completely effective) Stiffperson syndrome: Variants


Strychnine11



Hyperekplexia (Startle disease)

  Glycine receptor, α-1 subunit (strychnine binding) ; Chromosome 5q33.1; Dominant or Recessive


Fibrillations




Positive Sharp Waves



Endplate Spikes



Miniature endplate potentials (MEPPs)



Fasciculations




Complex repetitive discharges




Tetany with carpopedal spasm


Barker



Geniospasm (GSM1)

  Chromosome 9q13-q21; Dominant


Palmaris brevis spasm syndrome2


From: M. Al-Lozi
Palmaris brevis spasm



Superior Oblique Myokymia




Dopa responsive dystonia



Crisponi syndrome

  Cytokine Receptor-Like Factor 1 (CRLF1) ; Chromosome 19p13.11; Recessive


Whipple's




Muscle Cramp Syndromes: Autosomal Dominant

Familial cramp syndrome
Familial dwarfism with muscle spasms
Muscle cramp & neuropathy syndrome
HANAC
Cramps & myalgias


Muscle cramp & Neuropathy syndrome1
  Autosomal Dominant Familial Cramp Syndrome
  Autosomal Dominant Hereditary Angiopathy, Nephropathy, Aneurysms & Muscle Cramps (HANAC) 35
  Collagen Type IV α1 (COL4A1) ; Chromosome 13q34; Dominant

FLAIR hyperintensities +
  Foci of prior hemorrhage

Multiple small hypointense lesions
Also see

Sporadic Cramp Syndromes

Cramp-fasciculation syndromes

Pregnancy-associated cramps
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3/25/2014