Inherited spinocerebellar ataxia with onset usually in
the first 2 years of life. Clinical features include severe muscle hypotonia
and atrophy, progressive changes in sensory nerve conduction
(polyneuropathy), and seizure activity.
OHAHA Syndrome (Ophthalmoplegia, Hypacusis, Ataxia,
Hypotonia, and Athetosis Syndrome); Infantile Spinocerebellar Ataxia with
Sensory Neuropathy. Some researchers also use the term Spinocerebellar
Ataxia (SCA) type 8 for this disease; however, this term has not been
Extremely rare, but more
frequent in the Finnish population. The Finnish form of infantile-onset
spinocerebellar ataxia (IOSCA) presents with slower progressive symptoms
with clumsiness and loss of ability to walk as first manifestation. It does
not share the same gene locus as OHAHA. It is an autosomal recessive
inherited form of spinocerebellar ataxia with the mutation linked to 10q24.
Slowly progressive clinical symptoms appear
usually between the ages of 10 and 24 months in previously healthy infants.
The first symptoms are usually clumsiness and loss of the ability to walk.
Ataxia, athetosis, and muscle hypotonia with loss of deep tendon reflexes,
ophthalmoplegia with only convergence persisting, and hearing loss can be
discovered on clinical examination. A polyneuropathy with profound decrease
in sensory nerve conduction velocities and progressive loss of myelinated
fibers in sural nerve biopsies may develop by adolescence. Involvement of
the vestibular organ can markedly disturb the balance and may be present at
the onset of symptoms. Some patients show abnormal background activity on
the EEG with advancing age, and seizures (status epilepticus) have been
described. Neuroradiologic investigation reveals cerebellar atrophy as the
main cause of ataxia.
Proper evaluation of the extent of
muscle hypotonia must be obtained. Seizure medication must be maintained. An
anesthesia consultation is recommended before elective surgery.
As the disease progresses, nerve
stimulation becomes technically more difficult, on the one hand making nerve
location and regional anesthesia more unreliable and on the other hand
requiring reduced concentration of local anesthetic solutions to produce a
sufficient nerve blockade. Depending on the progress of the disease,
monitoring of muscle relaxation may be difficult secondary to
Succinylcholine is best avoided
because these patients may show increased sensitivity and hyperkalemic
response. Chronic antiseizure medication can lead to hepatic enzyme
induction and therefore affect the hepatic metabolism of other drugs.
Pagon Bird Detter Syndrome: X-linked recessive condition
characterized by nonprogressive cerebellar ataxia, hyperreflexia, clonus,
hypochromic microcytic anemia, ringed sideroblasts on bone marrow
examination, and onset in early childhood. Believed to be caused by
mutations in the adenosine triphosphate-binding cassette, subfamily B,
member 7 gene.
Kallio AK, Jauhiainen T: A new syndrome of ophthalmoplegia, hypoacusis,
ataxia, hypotonia and athetosis (OHAHA). Adv Audiol 3:84, 1985.
Koskinen T, Santavuori P, Sainio K, et al: Infantile onset spinocerebellar
ataxia with sensory neuropathy: A new inherited disease. J Neurol Sci
Nikali K, Isosomppi J, Lonnqvist T, et al: Toward ...