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Friedrich’s Ataxia

Title               

Ñ    Friedrich’s Ataxia

Definition

Ñ    A condition which causes progressive degeneration of the:

Ñ    Dorsal root ganglia

Ñ    Spinocerebellar tracts

Ñ    Corticospinal tracts

Ñ    Cerebellar Purkinje cells

Aetiology

Ñ    Autosomal recessive inheritance

Pathogenesis

Ñ    The Friedrich’s ataxia gene encodes a protein known as fraxatin, which is a mitochondrial protein

Ñ    In this condition there is abnormal function of mitochondrial ATP

Clinical Features

History

Age

Ñ    Features occur around age 12 years

CNS

Ñ    Dysarthria

Ñ    Difficulty walking

Family History

Ñ    Positive family history

Examination

CVS

Ñ    Hypertrophic cardiomyopathy

CNS

Ñ    Dysarthria

Ñ    Optic atrophy

Ñ    Retinitis pigmentosa

Ñ    Nystagmus

Ñ    Muscle wasting

Ñ    Decreased tone

Ñ    Muscle weakness

Ñ    Decreased reflexes

Ñ    Extensor plantars

Ñ    Cerebellar signs

Ñ    Impaired vibration sense

Ñ    Impaired joint position sense

LMS

Ñ    Scoliosis

Ñ    Pes cavus

GIT

Ñ    High arched palate

E&M

Ñ    Diabetes mellitus

Investigations

Fluids

Biochemistry

Ñ    Blood glucose:

May be elevated

Imaging

Echocardiogram

Ñ    Symmetric or asymmetric left ventricular hypertrophy

MRI

Ñ    Cerebellar atrophy

Electrophysiology

ECG

Ñ    T inversion

EMG

Ñ    Decreased sensory and motor potentials

Management

Support

Surgery

Ñ    Corrective surgery for skeletal deformities

Staffing

Ñ    Physiotherapy

Equipment

Ñ    Wheelchair

Prevention

Lifestyle Adjustments

Ñ    Genetic counselling

Prognosis

Ñ    Death by about age 40 years

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