Anemia sideroblastic and spinocerebellar ataxia

Synonyms

7

Overview

A rare inherited condition characterized by anemia at birth as well as spinocerebellar ataxia (impaired ability to control voluntary movements).

Symptoms

• Anemia
• Impaired ability to control voluntary movements
• Clonus
• Positive Babinski sign
• Hyperchromic microcytic anemia
• Incoordination
• Neurological speech impairment
• Nystagmus

Causes

* Orthopedic issues affecting the foot, ankle, leg, knee, or hip * Peripheral neuropathy (sensory and/or motor) –Slapping gait: Sensory neuropathies may result in a tendency to slap the feet firmly against the ground to improve proprioceptive input –Steppage gait: Seen in patients with foot drop –The classic tabetic gait combines both stepping and slapping gaits * Mononeuropathy/radiculopathy affecting the lower extremities may result in gait abnormalities (e.g., either a peroneal neuropathy or L5 radiculopathy can cause a unilateral steppage gait) o Myelopathy –Patients with bilateral lower extremity weakness and hypertonicity secondary to a spinal cord lesion may exhibit a spastic gait with stiffness of both legs and a tendency toward scissoring of the legs with walking o Brainstem or cortical lesions (e.g., multiple sclerosis, CVA) –Most commonly result in a hemiparetic gait with circumduction of the weak leg o Cerebellar lesions –Result in an ataxic gait, which tends to be wide-based, irregular, and staggering o Intoxications + Parkinsonism –Patients exhibit stooped posture, decreased arm swing, and shuffling (take many small steps) + Myopathies –Tend to produce a waddling gait because of weakness of the trunk, hip, and proximal lower extremity muscles + Spinocerebellar ataxia + Hereditary spastic paraparesis + Hysterical gaits + Inherited neuropathies (e.g., Charcot-Marie-Tooth disease) + GALOP syndrome (gait disorder, autoantibodies, late age onset, polyneuropathy) + Normal pressure hydrocephalus + Infection (e.g., neurosyphillis, meningitis) + Vitamin B12 or thiamine deficiency

Treatment

Specific symptomatic measures to improve gait stability and efficiency may improve functional abilities –Assistive devices (e.g., canes, walkers, wheelchairs) –Orthotics (e.g., ankle-foot orthoses for foot drop) –Physical therapy # Removing intoxicating substances if present # Orthopedic pathologies may be resolved by rest, casting or orthotics, NSAIDs, or surgical therapy # Peripheral neuropathy/mononeuropathy: Treat the underlying cause to improve gait or prevent worsening # Radiculopathy: Physical therapy, medications (e.g., NSAIDs, muscle relaxants), local injection therapies (e.g., epidural injections), and/or surgical intervention # Myelopathy: Treating the underlying cause may improve or prevent worsening of gait; spasticity may be treated with antispasticity agents (e.g., baclofen) # Structural lesions of the brainstem, cerebellum, or cerebrum should be identified and treated if possible (e.g., multiple sclerosis)

Resources

• NIH