Gamstorp-Wohlfart syndrome

ORPHA: 324442

Contents

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

Overview

syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs

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 Gamstorp-Wohlfart syndrome, sourced from HPO and Orphanet clinical annotations.

MyokymiaMyotoniaEMG: chronic denervation signsDistal lower limb muscle weaknessEMG: myokymic dischargesGait disturbanceReduced tendon reflexesAbnormal foot morphologyFrequent fallsElevated circulating creatine kinase concentrationAbsent Achilles reflexExercise intoleranceExercise-induced muscle crampsMotor axonal neuropathyMotor polyneuropathyLimb fasciculationsHandgrip myotoniaFatigable weakness of distal limb musclesAreflexiaFlexion contracturePes cavusAchilles tendon contractureImpaired vibration sensation in the lower limbsTetraparesisWriter's crampLoss of ambulationSteppage gaitSensory axonal neuropathyParesthesiaDistal sensory impairment of all modalitiesMuscle stiffnessPercussion-induced rapid rolling muscle contractionsDistal lower limb amyotrophyIntrinsic hand muscle atrophyExercise-induced leg crampsWeakness of the intrinsic hand musclesFoot dorsiflexor weaknessPeroneal muscle atrophyWeakness of long finger extensor musclesHand muscle atrophyHyperhidrosisSplit handMild intellectual disabilitySpecific learning disabilityThoracic scoliosisShort third metatarsalCamptodactyly of finger

Classification & Codes

Orphanet Code

ORPHA:324442

Gamstorp-Wohlfart syndrome

Orphanet	`ORPHA:324442`
Treatments	0 drug(s)
Symptoms on record	47 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO