Movement Specialists

Dystonia

• neurological & idiopathic

• abnormal processing b/w DCML & cortico-basal ganglia loop

• involuntary muscle contractions

Myotonic Dystrophy 1

• gene mutation

• CTG trinucleotide repeat on DMPK gene

• muscle weakness & wasting

• distal limbs, cognitive delays, fatigue

Duchenne Muscular Dystrophy (DMD)

• x-linked recessive neuromuscular

• genetic mutations of dystrophin gene (lack of functional protein)

• progressive weakness

• Gower’s maneuver

Cerebral Palsy

• neurological

• spasticity, delayed motor milestones, abnormal muscle tone, tremors

• brain injury (before or after birth)

• walking up stairs → vaulting, circumduction, anterior pelvic tilt

Stroke

• lack of blood delivery to brain

• ischemic = blockage of artery, hemmorhagic = brain bleed

• hemiparesis: weakness on one side of body

• ataxia: poor muscle control

Developmental Coordination Disorder (DCD)

• neurological

• perception-action coupling deficit

• 5-6% of children

• bottom up = process/deficit, top down = task

Ataxia

• inability to carry out coordinated movements

• forms: cerebellar, vestibular, acquired, spinocerebellar

• damage to cerebellum (afferent & efferent nerves)

Focal Hand Dystonia

• neurological

• miscommunication b/w basal ganglia & sensorimotor cortex

• common w/ repetitive hand movements

• involuntary muscle contractions, cramping, abnormal postures

Kennedy’s Disease

• rare, recessive x-linked

• typically seen in males

• repeat mutation in AR gene

• muscular weakness, cramps, twitches, tremors

Huntington’s Disease

• genetic, progressive

• mutation of HTT gene

• neurodegeneration in basal ganglia

• chorea: involuntary, jerky movements

• dystonia & bradykinesia

Amyotrophic Lateral Sclerosis (ALS)

• progressive, fatal

• neurodegeneration of upper & lower motor neurons

• muscle atrophy, weakness, loss of fine motor skills

• respiratory failure

Wilson’s Disease

• mutation in ATP7B gene

• impaired coordination & tremors

Parkinson’s Disease

• progressive, neurodegenerative

• dopamine deficiency - loss of dopamine releasing cells in substantia nigra

• tremors, muscle rigidity, bradykinesia

• freezing gait

Rett Syndrome

• neurodevelopmental

• predominately girls, 6 months

• mutation in MECP2 gene on x chromosome

• early development → regression

Dyspraxia

• disrupted connection in sensorimotor network

• higher activation → lack of coordination

• linked to ADHD

• poor coordination, clumsy movements, motor skills

Multiple Sclerosis (MS)

• chronic autoimmune disease

• more in females

• muscle weakness, spasticity, fine motor control, psychological

• genetic & environmental factors (vitamin D)

Down Syndrome

• genetic

• trisomy 21 (extra chromosome)

• ligament laxity, muscle hypotonia, intellectual & developmental disabilities

Tourette Syndrome

• neurological disorder

• involuntary motor & vocal tics

• basal ganglia

Carpal Tunnel Syndrome

• compression of median nerve

• forearm, wrist, hand, every finger except pinky

• central sensitization, axon damage, decreased blood flow

Lumbar SCI

• loss of motor/sensory info below injury site

• traumatic or insidious

• most common: motor vehicle accidents, falls, violence, sports

Limb-Girdle Muscular Dystrophy (LGMD)

• genetic

• progressive muscle weakness, fatigue, reduced coordination, joint stiffness

• proximal muscles (hips, shoulders)

Myoclonus

• neurological

• unpredictable muscle contractions

• genetic, metabolic disorders, infections, NTM imbalance

Rheumatoid Arthritis

• chronic, autoimmune, inflammatory

• synovial membrane lining joints

• pains, stiffness, swelling

• starts at small peripheral joints

Myasthenia Gravis

• autoimmune

• antibodies attack acetylcholine receptors & associated proteins at NMJ

• diplopia / double vision / extraoccular eye muscles

• early (women) & late (male) onset

Oculomotor Dysfunction

• 6 eye muscles, 3 cranial nerves

• eyes do not move smoothly or correctly

Erbs Palsy

• stretching or sectioning of brachial plexus

• muscle weakness, atrophy, loss of sensation, shorter tendons

Motor Neuron Disease

• progressive, neurodegenerative

• brain & spinal cord

• muscle weakness, spasticity, loss of coordination