Neuropathy ataxia and retinis pigmentosa
Overview
Neuropathy ataxia and retinis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
Symptoms
The list of signs and symptoms mentioned in various sources for Neuropathy ataxia and retinis pigmentosa includes the 17 symptoms listed below: * Numbness in arms * Numbness in legs * Tingling in arms * Tingling in legs * Arm pain * Leg pain * Muscle weakness * Balance problems * Coordination problems * Vision loss * Retinitis pigmentosa * Learning disability * Developmental delay * Dementia * Seizures * Hearing loss * Heart conduction defects
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
Diagnosis
Home medical testing related to Neuropathy ataxia and retinis pigmentosa: * High Cholesterol: Home Testing: o Home Cholesterol Tests o Home Triglycerides Tests o Home Blood Pressure Tests * High Blood Pressure: Home Testing o Home Blood Pressure Monitors o Home Heart Tests * Heart Health: Home Testing: o Heart Rate Monitors o Irregular Heartbeat Detection o Heart Electrocardiogram (ECG) * Thyroid: Home Testing: o Home Thyroid Function Tests o Home TSH Tests o Home Adrenal Function Tests * Diet & Weight Loss: Home Testing: o Home Weight Testing o Home Body Fat Testing (BMI) o Home Body Fat Monitoring o Home Fitness Testing * Diabetes: Related Home Testing: o Home Diabetes Tests o Home Blood Glucose Tests o Home Urine Glucose Tests o Home Urine Ketone Tests o Home Diabetes HbA1c Tests o Home Microalbumin Tests (Kidney) o Home Urine Protein Tests (Kidney) o Home Kidney Tests o Home Eye Tests