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distal muscular dystrophy Tateyama type

ORPHA: 488650

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

distal muscular dystrophy that has material basis in heterozygous mutation in CAV3 on 3p25

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with distal muscular dystrophy Tateyama type, sourced from HPO and Orphanet clinical annotations.

Pes cavusEMG: myopathic abnormalitiesIncreased variability in muscle fiber diameterCalf muscle pseudohypertrophyIntrinsic hand muscle atrophyWeakness of the intrinsic hand musclesProgressive distal muscle weaknessAbnormal muscle fiber protein expressionAbnormal circulating creatine kinase concentrationClumsinessHypercholesterolemiaPercussion-induced rapid rolling muscle contractionsCalf muscle hypoplasiaNeck muscle weaknessPalpitationsMyalgia

Classification & Codes

Orphanet Code

ORPHA:488650
distal muscular dystrophy Tateyama type
OrphanetORPHA:488650
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO