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Distal myopathy 2
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Distal myopathy 2

Distal myopathy 2 is an autosomal dominant muscular dystrophy characterized by adult-onset muscle weakness affecting the throat, lower legs, and forearms.

Overview

Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles farther from the center of the body, known as distal muscles, including the lower legs and forearms, as well as muscles in the throat.

Symptoms

The signs and symptoms of distal myopathy 2 slowly worsen over time and include:

  • Muscle weakness in the ankles, which is usually the first symptom.
  • Weakness affecting the hands, wrists, and shoulders.
  • Asymmetrical weakness that may initially affect only one side of the body before eventually involving both sides.
  • Difficulty walking and lifting the fingers.
  • Weakness of the vocal cords and pharyngeal muscles, which initially causes the voice to sound weak or breathy (hypophonic) and eventually progress to a gurgling, hoarse, and nasal sound.
  • Difficulty swallowing (dysphagia).

Frequency

The prevalence of distal myopathy 2 is unknown. At least two families with the condition have been described in the scientific literature.

Causes & Genetics

Distal myopathy 2 is caused by a mutation in the MATR3 gene. This gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix—a network of proteins providing structural support and aiding in nuclear functions.

While the exact function of matrin 3 is still being studied, research indicates it can bind to RNA and may perform the following roles:

  • Binding and stabilizing messenger RNA (mRNA), which serves as the genetic blueprint for proteins.
  • Binding certain abnormal RNAs to block the formation of nonfunctional or harmful proteins.
  • Promoting cell survival.

The MATR3 gene mutation identified in affected individuals changes a single protein building block (amino acid) in the matrin 3 protein. This mutation may alter the location of the protein in the nucleus, though researchers are still working to determine exactly how this change leads to the signs and symptoms of distal myopathy 2.

Associated Gene

  • MATR3

Inheritance

Distal myopathy 2 is inherited in an autosomal dominant pattern, which means one copy of the altered MATR3 gene in each cell is sufficient to cause the disorder.

Other Names for This Condition

  • Distal myopathy with vocal cord and pharyngeal signs
  • Distal myopathy with vocal cord weakness
  • Matrin 3 distal myopathy
  • MPD2
  • Myopathia distalis type 2
  • VCPDM
  • Vocal cord and pharyngeal weakness with distal myopathy

Frequently Asked Questions

definitive diagnosis requires a combination of a detailed family history, a muscle strength exam, and genetic testing that identifies a pathogenic variant in the MATR3 gene. Electromyography (EMG) and a small muscle biopsy may be performed to rule out other myopathies, but the genetic test is the gold standard.
Currently there is no disease‑modifying drug for distal myopathy 2. Management focuses on supportive care: physical therapy to maintain range of motion, speech therapy for swallowing, and the use of assistive devices (e.g., ankle‑foot orthoses, hand splints). Early intervention can help preserve function longer.
The condition typically spares the heart and respiratory muscles, but because muscle weakness can progress, periodic cardiac evaluation (ECG, echocardiogram) and pulmonary function tests are recommended, especially if symptoms such as shortness of breath or fatigue develop.===
The first sign is usually weakness in the ankles, often noticed as difficulty walking or a tendency to stumble. This can appear in the late 20s to early 40s. Within a few years, weakness may spread to the forearms, hands, and sometimes the throat, leading to mild voice changes.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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