Preferred Label : Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Iwashita et al. (1969, 1970) reported a Korean brother and sister with optic atrophy,
hearing loss, and distal neurogenic atrophy. The older brother, who was more severely
affected, was noted to have a peculiar hand posture at age 8 years. Both hands showed
ulnar deviation and flexed fingers. At age 13, he developed progressive hearing and
visual loss with optic atrophy, and began to have difficulty walking. Physical examination
at age 25 years showed thoracic scoliosis, funnel chest, and a short right thumb.
There were no foot deformities. He had marked distal muscle atrophy, more pronounced
in the upper limbs. Sensory loss of all modalities was restricted to the lower limbs.
He had an ataxic, broad-based gait. Nerve conduction velocities were normal and sural
nerve biopsy showed slight demyelination. The sister had distal weakness and atrophy
of the upper limbs with the same hand deformity as her brother, but no weakness or
atrophy of the lower limbs. She had mild hearing loss and optic atrophy without visual
impairment. Other features included slight thoracic scoliosis and brachytelephalangia
of the right thumb. She had no sensory impairment. Iwashita et al. (1970) suggested
that inheritance in this family was autosomal recessive, thus excluding the disorder
described by Rosenberg and Chutorian (1967), which showed X-linked inheritance (311070).
Konigsmark and Gorlin (1976) considered them to be separate disorders. See 165199
for a possible autosomal dominant form of the disorder. *FIELD* RF 1. Iwashita, H.;
Inoue, N.; Araki, S.; Kuriowa, Y.: Optic atrophy, neural deafness, and distal neurogenic
amyotrophy: report of a family with two affected siblings. Arch. Neurol. 22: 357-364,
1970. 2. Iwashita, H.; Inoue, N.; Kuroiwa, Y.: Familial optic and acoustic nerve degeneration
with distal amyotrophy. Lancet 294: 219-220, 1969. Note: Originally Volume 2. 3. Konigsmark,
B. W.; Gorlin, R. J.: Genetic and Metabolic Deafness. Philadelphia: W. B. Saunders
(pub.) 1976. Pp. 108-110. 4. Rosenberg, R. N.; Chutorian, A.: Familial opticoacoustic
nerve degeneration and polyneuropathy. Neurology 17: 827-832, 1967. *FIELD* CS Autosomal
recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 258650;
Origin ID : 258650;
UMLS CUI : C1839566;
Automatic exact mappings (from CISMeF team)
- HPO term(s)
- Not associated HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
