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Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
SNOMED CT: Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (237611007); Furukawa Takagi Nakao syndrome (237611007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0008023
OMIM®: 158500
Orphanet: ORPHA2579


A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. [from SNOMEDCT_US]

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
Concept ID:
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Skeletal muscle atrophy
MedGen UID:
Concept ID:
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Diabetes mellitus
MedGen UID:
Concept ID:
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Rod-cone dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMuscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
  • Hereditary ataxia
    • Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
Follow this link to review classifications for Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus in Orphanet.

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