Diseases of neuromuscular transmission,

demyelinisation muscle membrane and 1

muscles
Diseases of neuromuscular transmission 2

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Lambert-Eaton symptoms 3

• Caused by autoantibodies that inhibit the function of presynaptic

calcium channels which reduces acetyl choline release into the
cleft.
• It often arises as a paraneoplastic disorder. Particularly in pts with
small cell lung carcinoma
Miscellaneous Neuromuscular Junction 4

• Congenitial myasthenic syndromes-depending on the affected

protein the defects can occur at the level of acetyl choline
Presynaptic, synaptic and postsynaptic level.
• They may produce symptoms suggestive Lambert-Eaton or
Mysenthia Gravis. Some forms respond to treatment with
acetylcholinesterase inhibitiors
• Infections-clostridial infections
Diseases of myelination 5
Demyelinating diseases of the PNS-peripheral
nerve injury 6

• Can be classed as either axonal or degenerating.

1. Axonal Neuropathies-
• caused by insults that directly injure the axon.
• Axonal degeneration associated with secondary myelin loss
• 2. Demyelinating neuropathies-a pattern of peripheral nerve injury
characterized by damage to Schwan cells with relative sparing of
the axon
• Neuropathies can fall into several patterns and may cause motor
and/or sensory damage:
Demyelinative diseases in PNS 7
1. A simple Mononuropathies-involve entrapment of sigle nerve
2. Polyneuritis multiplex- in which damage randomly affects portions of individual nerves resulting in right
hand radial palsy
3. Polyneuropathies-affect nerves in a symmetric like fashion with axonal loss being diffuse leading to glove
and stocking paresthesia's in legs and hands

Diseases associated with peripheral nerve injury

4. Guillian-Barre syndrome-
• very common life threatening diseases of PNS
• It’s a rapidly progressing demyelinating disorder resulting in ascending paralysis
whixh my cause death via respiratory failure associated with autoimmune response
to an infection from campylobacter jejuni,EBV ,CMV and HIV
2.CIDP-chronic inflamatorry demyelinating polyneuropathy
• Typically manifests as an symmetric demyelinating disease.
• Immune mediated
• It follows a chronic remitting or progressive course
Demyelinating diseases of CNS:M.S 8
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• Immune mediated injury can occur after a number of systemic

infections including some mild viruses:
1. Central pontine myelinosis- non immune process chrachterised by myelin loss
involving center of the pons, most often after correction of hyponatremia
2. Leukodystrophies- inherited demyelinating diseases in which clinical
symptoms arise from abnormal myelin synthesis
3. SSPE-acquired complication of measles virus in which the virus is reactivated
later in childhood
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 Diseases of muscle membrane and muscles
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1. Inherited
• include muscular dystrophies, congenital muscular dystrophies, and
congenital myopathies
• Muscular dystrophies-result in progressive injury in pts who appear normal
at birth.
• Congenital muscular dystrophies-progressive early onset diseases some of
which are associated with cns manifestations
• Congenital myopathies- heterogeneous group of diseases that often have
perinatal presentation and result in relatively static defects
Dystrinopathies:Duchenne and Becker’s 12
• Are the most common form of muscular dystrophy.
• DMD and BMD are the 2 important disease manifestations linked to
mutations in the dystrophin gene located on the short arm of the X
chromosome
• its normal purpose is to stabilize the muscle cells vulnerable to transient
membrane tears during contraction
• Clinical features: Clumsiness, psudohypertrophy of calf muscles
,arrhythmias and cardiomyopathies
• Death usually results from results from insuffiency,pneumonia and
cardiac decompensation
Myopathies and other dystrophies 13
• Dystrophies
1. myotonic dystrophy-patients often complain of stiffness and difficulty releasing their grip
after a handshake. It’s an autosomal dominant disease . The manner in which it produces
disease is unclear. Manifests in late childhood with gait abnormalitites due to weakness of
dorsiflexors .
• Myopathies
1. Myopathies due to inborn errors of metabolism including glycogen metabolism and lipid
handling abnormalitites and they can cause a variety of symptoms.
2. Can also be caused by defects in genes affecting mitochondria and Ion channels
Acquired disorders of skeletal muscle 14

• Inflammatory Myopathies
1. Dermatomyositis-the most common inflammatory myopathy in
children. In both contexts it is believed to have an autoimmune
complex
Thank you for your attention 15