Friedreich ALSANGEDY

Ataxia BULLETS™
 Autosomal recessive ataxia FOR PACES
 Progressive limb and gait FOR EASY PASSING PACES FROM
ataxia develops before the THE 1ST ATTEMPT
age of 30 years Dr. Ibrahim Alsangedy
MRCP-UK, MRCEM-UK, MRCPE, AMC
 Wide-based gait with CAT (AU), IDHA (USA), M.SC (ICU),
constant shifting of position ADDM, HCQM
to maintain balance
 Extensor plantar responses
 Distal motor weakness of the
legs and feet
 Lower extremity tendon
reflexes are absent

 Nystagmus & Vision

impairment
 Hearing impairment &
Slurred speech
 Associated with non-
neurological features such as
diabetes, cardiomyopathy,
scoliosis, and pes cavus
 Intellectual disability,
psychosis, and dementia
Workup Differential diagnosis Management
 Laboratory Studies  Abetalipoproteinemia  Major goals of therapy
 Ataxia with isolated vitamin E  Patient education
 Genetic counseling provides deficiency  Treatment for heart failure,
a conclusive diagnosis  Hereditary motor and sensory arrhythmias, and diabetes
neuropathies mellitus
 Electromyography  Refsum disease  No therapeutic measures
 Spinocerebellar ataxia (SCA) are known to alter the
natural history of the
 Nerve Conduction neurological disease
Studies
Pathophysiology  The stepwise approach
 Imaging Studies
(1) Friedreich's ataxia is an  Rehabilitation therapy is a
 Magnetic resonance imaging autosomal recessive cornerstone of present-day
(MRI) is the study of choice disorder that affects a gene ataxia therapy
in the evaluation of the (FXN) on chromosome 9  Speech therapy since
atrophic changes seen in which produces an dysarthria occurs in almost
Friedreich ataxia important protein called all Friedreich's ataxia
 Transcranial sonography frataxin patients
(2) The primary site of  Good quality, well-fitted
 Other Tests pathology is in the spinal orthoses can support
 Echocardiography cord and peripheral normal joint alignment and
 Brainstem auditory evoked nerves stabilize joints during
responses
 Visual evoked potentials
(3) Sclerosis and degeneration walking
of dorsal root ganglion,  Surgical interventions help
 Somatosensory evoked
spinocerebellar tracts, the patient maintain
potentials (SSEP)
lateral corticospinal tracts, functional independence for
and posterior columns as long as possible