Neuromuscular Disorders

Faik Altıntas M.D.

Orthopaedic and Traumatology

Neuromuscular DisordersTo operate correctly, muscles must be stimulated by

electrical signals originated from brain and received from nerves

Two major types of disorder are seen:1). “Neuro” related:

Problems with signal transmission in the nerves. Problems getting the signal transferred from the nerve “across”

to the muscle fibres (muscle cells).

2). Muscle related:Problems within the muscle itself.

Neuromuscular DisordersCerebral Palsy

A group of disorders thta result from non-progressive brain damage during early devolepment

1-2 /1000 live birthsKnown causes

Maternal toxemiaPerinatal anoxiaKernicteriusPostnatal infectionsBrain traumaBirth trauma

Neuromuscular DisordersCerebral Palsy

Main consequence is the development of neuromusclar incoordination, dystonia, weakness, spascity, convulsions,speech and vision disorders, mental retardition, behavioral problems

Spastic palsy %60AthetosisAtaxiaRigid HypotonicMixed

Neuromuscular DisordersCerebral Palsy

HemiplegiaDiplegiaQuariplegia

Neuromuscular DisordersFriedrich’s Ataxia

ORDegeneration of the spinocerebellar and corticospinal

tracts, posterior coloumn of the cord and part of cerebellum

Present 5-6 years oldPes cavovarus, scoliosis, cardiac failure

Neuromuscular DisordersSpina Bifida

Congenital disorder Lack of Folate Failure of posterior

vertebral arch fusionDysraphismUsually in lomber spineIf neural elements involved,

paralysis, loss of sensation and loss of sphincter control happens

Neuromuscular DisordersSpina Bifida

Spina Bifida OccultaMildest formOnly defect in laminaeMay be defects on skin such

as dimple, pit or hairMost of them undiagnosed,

few may have tethered cord, diastometamyelia, medullar lipomas

Neuromuscular DisordersSpina Bifida

MeningoceleThe spinal cord and nerve

roots remain in their normal position and duramater is open posteriorly and sac protrudes under skin

Most of them have no neurological abnormality, but hydrocephalus, infection and ulceration of the cycst are common

Neuromuscular DisordersSpina Bifida

MyelomeningoceleThe spinal cord and

nerve roots prolapse together with the meningeal sac

Hydrocephalus, paralysis under affected zone, multiple deformities ( hip dislocation, genu recurvatum, PEV, claw toes), CSF leakage are very common

Neuromuscular DisordersPoliomyelitis

Viral infection of the anterior horn cells of the spinal cord and brain stem

Asymetric flaccid paralysis of the affected muscle groups

Very rare after vaccination programs

Neuromuscular DisordersPoliomyelitis

Flue like symptomsPain and spasms for

2-3 daysParalysis settled with

in 6 monthsUnbalanced,asymetric

flaccid paralysis often with intact sensation

Neuromuscular DisordersPoliomyelitis

Isolated muscle weakness without deformity: quadriceps esp

Deformity Flail JointShortening

Neuromuscular DisordersAmyotrophic Lateral

SclerosisDegenerative disease with

unknown etiologyProgresive and incurableEnds in wheelchair, death

happens with respiratory weakness and aspiration pnomonia

Middle age patient with dysartria, difficulty in swallowing, clumpsy hand and limp weakness

Neuromuscular DisordersSpinal Muscular Atrophy

Heritable disorderWidespread degeneration of

anterior horn cells lading to progressive LMN weakness

Werdnig-Hoffmann disease most common type

Muscle weakness, paralytic scoliosis, hard to feed, difficult to breath

Death happens often 2 years of age

Neuromuscular DisordersDuchenne Muscular Dystrophy

X-linked heritable progressive disease : Only in boys

Defective gene p21 on X Chromosome, fails to produce Dystrophin

Most of the patients diagnosed when they start to walk

Difficulty in standing and walking/running

The muscles look bulky: pseudohypertrophia

Neuromuscular DisordersDuchenne Muscular

DystrophyA characteristic method for

climbing up his legs: Gower’s sign

By 10 years of age child cant walk again

By 20 years of age death comes by cardiac or respiratory failure

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