ataxia-telangiectasia-like disorder 1

An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) o

An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21.

Signs and symptoms

• Dystonia
• Ataxia
• Oculomotor apraxia
• Unsteady gait
• Dysarthria
• Gaze-evoked nystagmus
• Dysmetria
• Cerebellar atrophy
• Distal amyotrophy
• Gait ataxia