| disease | Hereditary Ataxia |
It is a degenerative disease of the central nervous system characterized primarily by ataxia caused by autosomal abnormalities. The disease progresses slowly and has a familial hereditary history.
bubble_chart Diagnosis
1. Clinical Manifestations: Based on the type of ataxia, it is classified as follows:
1. Spinal Type: ⑴ Friedreich's Ataxia:
Autosomal recessive inheritance, onset in adolescence, initial unsteady gait, gradually developing symptoms of posterior column damage, positive Romberg's sign, which improves with eyes open. Subsequently, the spinocerebellar tracts are involved, leading to a wide-based gait, staggering, intention tremor, and cerebellar dysarthria. Limb muscle tone is reduced, tendon reflexes are diminished or absent, and the lower limbs feel heavy. Some patients may have pes cavus, scoliosis, or other deformities, and a few may present with cardiac abnormalities. ⑵ Hereditary Spastic Paraplegia: Autosomal dominant or recessive inheritance, or X-linked inheritance. Onset in childhood, more common in males, primarily involving damage to the pyramidal tracts, manifesting as slowly progressive spastic paralysis of the lower limbs and scissor gait. No sensory impairment, upper limbs are rarely affected, and it may be accompanied by primary optic atrophy or retinal pigment degeneration.
2. Cerebellar Type:
⑴ Marie's Ataxia: Autosomal dominant inheritance, onset in adulthood, starting with cerebellar ataxia in the lower limbs without sensory impairment. Speech is often halting or explosive, and pyramidal signs, euphoria, and intellectual decline may occur.
⑵ Olivopontocerebellar Atrophy (OPCA): Autosomal dominant inheritance, onset after middle age. In addition to cerebellar ataxia and dysarthria, early urinary incontinence is present. Some patients exhibit intellectual decline and extrapyramidal symptoms such as Parkinsonism, but no ocular tremor.
3. Spinocerebellar Type:Mainly Ataxia-Telangiectasia: Autosomal recessive inheritance, onset in infancy, presenting with cerebellar ataxia, dysarthria, and cutaneous or facial telangiectasia. Most cases are accompanied by choreoathetosis, which becomes more pronounced with age. Posterior column symptoms such as loss of deep sensation and positive pathological reflexes appear after adolescence. Recurrent respiratory infections due to immunodeficiency may occur, and advanced stages may involve extensive pulmonary fibrosis and respiratory insufficiency.
2. Auxiliary Examinations:
1. X-rays of the affected areas may show changes in cases with pes cavus or scoliosis.
2. Cranial MRI is diagnostic for OPCA.
bubble_chart Treatment Measures
There is no effective treatment.
1. For spastic paraplegia, Artane 2mg three times a day can be used to reduce muscle tone, along with neurotrophic drugs such as citicoline 250mg once a day and coenzyme Q10 10mg intramuscular injection once a day.
2. For OPCA and cerebellar ataxia, biological agents such as Cerebrolysin, brain polypeptides, or nerve growth factor therapy may be tried. Alternatively, fetal brain implantation into the cerebellum via surgery may be effective for some patients.
3. For some cases of cerebellar atrophy, extracranial vascular bypass surgery can be performed to improve cerebellar circulation and increase blood supply.
4. Low-frequency electrical stimulation, or acupuncture at points such as Huantiao (GB30), Quchi (LI11), and Jiaji (EX-B2), once every 1–2 days for 12–15 sessions as one course, or scalp electroacupuncture targeting the balance and auditory areas, may alleviate symptoms in some patients.
