MYOPATHIES

NEUROPATHIES

NEUROPATHIES, MYOPATHIES
NEUROPATHIES (7) MYOPATHIES (9)
Inflammatory Infectious Hereditary (HMSN-I) HMSN-II, HMSN-III

Denervation
Dystrophies Ion Channel Congenital Genetic Metabolic Inflammatory Toxic NeuroMuscular Junction Neoplasms

Acquired (Toxic/Metabolic)
Traumatic Neoplasms

GENERAL Reactions
NERVE
DEMYELINATION (segmental) AXONAL DEGENERATION NERVE REGENERATION REINNERVATION

MUSCLE FIBER
NECROSIS VACUOLIZATION REGENERATION ATROPHY HYPERTROPHY

HYPERTROPHY, ATROPHY

NEUROPATHIES, MYOPATHIES
NEUROPATHIES (7) MYOPATHIES (9)
Inflammatory Infectious Hereditary (HMSN-I HMSN-II, HMSN-III) Acquired Toxic/Metabolic Traumatic Neoplasms Denervation Dystrophies Ion Channel Congenital Genetic Metabolic Inflammatory Toxic NeuroMuscular Junction Neoplasms

NEUROPATHY, Inflammatory
Guillain-Barr
Preceded by influenza-like illness NO actual specific etiologic agent isolated, autoimmune disease to myelin gangliosides most likely Inflammation of a peripheral nerve DEMYELINATION ASCENDING paralysis

Guillain-Barr, (AIDP), Acute Inflammatory Demyelinating Polyneuropathy

NEUROPATHY, Infectious Leprosy Diphtheria V/Z (Varicella-Zoster)

N
E U

R
O

T
O X I

C. DIPHTHERIAE

Z
O

S
T E
POSTHERPETIC NEURALGIA
ZOSTER in DRG

NEUROPATHY, Hereditary
(defective myelination)
(Hereditary Motor and Sensory Neuropathy)

HMSN-I (Charcot-Marie-Tooth)
HMSN-II (Like CMT of the neurons) HMSN-III (Palpable Nerves) (aka, Dejerine-Sottas)

PES CAVUM(S),

in CMT

NEUROPATHY,
Toxic/Metabolic
Symmetric, Asymmetric Sensory, Sensorimotor Somatic, Autonomic Focal, Multifocal

NEUROPATHY,
Toxic/Metabolic Diabetes Mellitus
Vitamin Deficiencies (many Bs, E) Heavy Metals, Pb, As, etc. Organic Compounds

CHEMO

DEMYELINATION

NEUROPATHY, Traumatic
Laceration regeneration rate = 1mm/day or 1 in/mo. Avulsion Carpal Tunnel Traumatic (amputation) Neuroma Saturday Night Palsy (radial n.) Morton Neuroma

TRAUMATIC NEUROMA
Regenerating Axons and Glia (Schwann Cells), but with no direction

MEDIAL Plantar Nerve

MORTONS NEUROMA
Traumatic Compression F>M Interdigital Intermetatarsal

http://www.google.com/search?hl=en &sugexp=gsishc&xhr=t&q=morton's+ neuroma&cp=14&bav=on.2,or.r_gc.r_ pw.&um=1&ie=UTF8&tbm=isch&source=og&sa=N&tab= wi&biw=1366&bih=705

NEUROPATHY, Neoplastic
Benign: Schwannoma Malignant: Malignant Schwannoma

Antoni A: Palisaded

Antoni B: NON-Palisaded

QUIZ:
Why are Schwannomas the ONLY tumors of peripheral nerve?

MYOPATHIES

NEUROPATHIES, MYOPATHIES
NEUROPATHIES (7)
Inflammatory Infectious Hereditary (HMSN-I) HMSN-II, HMSN-III Acquired Toxic/Metabolic Traumatic Neoplasms

MYOPATHIES (9) Denervation (SMA) Dystrophies Ion Channel Congenital Genetic Metabolic Inflammatory Toxic NeuroMuscular Junction Neoplasms

MYOPATHY, Denervation
MUSCLE FIBERS

CANNOT SURVIVE
UNLESS THEY ARE INNERVATED
PERIPHERAL NERVE PATHOLOGY ANTERIOR (ventral) HORN CELL PATHOLOGY

SPINAL MUSCULAR ATROPHY

Anterior Horn Cells Often PAN-fascicular Shoulder, hip muscles

MYOPATHY, Dystrophic
Jerrys kids, no DYSTROPHIN

DUCHENNE (DMD), x-linked BECKER (BMD) (less common,

NORMAL

DMD

Limb Girdle Muscular Dystrophies

Inheritance
1 A 1 B 1 C 1 D 2 A 2 B 2 C 2 D 2 E 2 F 2 G 2 H
Autosomal-dominant

Locus
5q31

Gene
Myotilin

Clinicopathologic Features
Onset in adult life with slow progression of limb weakness, but sparing of facial muscles; dysarthric speech Onset before the age of 20 years in lower limbs, progression during many years with cardiac involvement Onset before the age of 20, clinically similar to type 1B

Autosomal-dominant

1q21

Lamin A/C

Autosomal-dominant

3p25

Caveolin-3 (Mcaveolin) Unknown

Autosomal-dominant

7p

Limb girdle muscle weakness, adult onset

Autosomal-recessive

15q15.1-21.1

Calpain 3

Onset in late childhood to middle age; slow progression during 20 30 years Mild clinical course with onset in early adulthood

Autosomal-recessive

2p13.3-q13.1

Dysferlin

Autosomal-recessive

13q12

-Sarcoglycan

Severe weakness during childhood, rapid progression; dystrophic myopathy on muscle biopsy Severe weakness during childhood, rapid progression; dystrophic myopathy on muscle biopsy Onset in early childhood, with Duchenne-like clinical course

Autosomal-recessive

17q21

-Sarcoglycan (adhalin) -Sarcoglycan

Autosomal-recessive

4q12

Autosomal-recessive

5q33

-Sarcoglycan

Early onset and severe myopathy; dystrophic myopathy on muscle biopsy Distal weakness with limb-girdle weakness in late childhood to adulthood; rimmed vacuoles in muscle cells Limb-girdle and facial weakness with onset in childhood, mild, slowly progressive course

Autosomal-recessive

17q11-q12

Telethonin

Autosomal-recessive

9q31-q34.1

Tripartite motifcontaining protein

MYOPATHY, Ion Channel

Channelopathies

PARALYSIS FAMILIAL, (genetic) DISEASES TRIGGERED BY:

Classified by K+, K+, K+ MALIGNANT HYPERTHERMIA can be triggered off by anesthetic halogenated inhalation agents in some of these patients!!!

MYOPATHY, Congenital
Floppy Babies
HYPOTONIC FAMILIAL, (genetic) DISEASES MANY TYPES, in most of which the precise genetic defects have been identified

MYOPATHY, Metabolic
(genetic also)
LIPID
Mitoch. Enz. Def. LIPID ACCUMULATION

MITOCHONDRIAL
PARKING

LOT mitochondria

PARKING
LOT

MITOCH.

MYOPATHY, Inflammatory
DERMATOMYOSITIS POLYMYOSITIS INCLUSION BODY MYOSITIS ALL HAVE UNCLEAR ETIOLOGIES

DERMATOMYOSITIS
(often peri-vascular)

POLYMYOSITIS, usually endo-myseal

INCLUSION BODY MYOSITIS, rimmed vacuoles

MYOPATHY, Toxic
THYROTOXICOSIS ETHANOL DRUGS (steroids, chloroquine) DRUGS (MANY MANY others)

MYOPATHY,
NeuroMuscular Junction
Myasthenia Gravis
Associated with thymomas Thymectomies often useful Rx: AUTOIMMUNE DISEASE, CLEARLY Abs to ANTI-CHOLINESTERASE RECEPTORS Anticholinesterase test is very diagnostic (edrophonium) YOUNG WOMEN WITH EYE MUSCLE:

Ptosis Diplopia General Weakness

Lambert-Eaton Syndrome (paraneoplastic), 60%

MYOPATHY, Neoplastic

Benign
Rhabdomyoma

Malignant
Rhabdomyosarcoma