Signs and Symptoms of Muscular Dystrophy

Muscular Dystrophy is a genetic and clinically heterogeneous group of neuromuscular dysfunctions that results in progressive muscle weakness and mobility issues over time. It is considered a rare disorder and impacts 1 in 3500 people worldwide. The chief cause of the problem is a mutation in the genes involved in muscle making or, specifically, a dysfunction of the Dystrophin protein that links the muscle membrane to the filaments and strengthens the muscle fibers while protecting them from injury.

Approximately 30 types of genetic conditions can result in muscle degeneration and weakening. Nine significant muscle group dystrophy is based on the pattern of inheritance, severity of symptoms, age of the person, and the extent of muscle degeneration in their bodies.

Signs and Symptoms of Muscular Dystrophy

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy is a muscular weakness observed in the neonatal or newly born infant. It is characterized by a diminished muscle tone, resulting in the infant being called a floppy baby. Muscle weakness can remain the same, improve or worsen with accompanying brain defects and intellectual disability.

Symptoms of Congenital Muscular Dystrophy are

  • Low muscle tone

  • Tightness of ankles, hips, knees, and elbows

  • Respiratory problems

Signs of congenital muscular Dystrophy are

  • Muscle weakness

  • Abnormal curvature of the spine

  • Abnormally flexible joints of the wrists, ankles, fingers, and toes

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is caused by a defect of the dystrophin protein in the muscles and typically affects boys between the ages of two to five. But girls can get it as well. It is regarded as the most common form of muscular Dystrophy and decreases ambulatory functions while increasing the mortality rate of the child to a moderate extent.

Symptoms of Duchenne Muscular Dystrophy

  • Waddling Gait

  • Difficulty climbing stairs

  • Impaired Breathing

  • Frequent falls and clumsiness

Signs of Duchenne Muscular Dystrophy

  • Enlargement of the calf muscles with wasting of the thigh muscles

  • Hypertrophy of the tongue

  • A waddling gait

  • Lumbar Scoliosis ( abnormal curvature of the spine )

Becker Muscular Dystrophy

A deficiency of the dystrophin protein causes both Becker muscular dystrophy and Duchenne Muscular Dystrophy. Dystrophin protein is absent in Duchenne Dystrophy but present in limited amounts in Becker Muscular Dystrophy.

Symptoms of Becker Muscular Dystrophy

  • Delayed gross motor milestones

  • Difficulty walking stairs

  • Myalgia ( muscle aches and pain in the ligaments, tendons, and fascia )

Signs of Becker Muscular Dystrophy

  • Cognitive and behavioral deficits

  • Fibrosis of the heart muscles

  • Abnormal respiratory muscles

Emery-Dreifuss muscular Dystrophy

Emery-Dreifuss muscular dystrophy starts with movement restrictions in early childhood and gradually worsens with heart problems developing by adulthood. EMD, FHL1, and LMNA gene mutations are the chief causative factors behind the problem.

Symptoms of Emery-Dreifuss Muscular Dystrophy

  • Spinal Rigidity

  • Heart Anomalies like palpitations, slow heartbeat, and abnormalities observed in echocardiogram

  • Lightheadedness

  • Fainting

  • Spread of muscle weakness

Signs of Emery-Dreifuss Muscular Dystrophy

  • Weakness in the shoulders, upper arms, and lower legs in the early stages

  • Difficulty lifting heavy objects or lifting arms above the head

  • Tiredness and breathlessness

Facioscapulohumeral muscular Dystrophy (FSHD)

Facioscapulohumeral muscular Dystrophy is an inherited neuromuscular disorder caused by abnormalities of the DUX4 gene. The symptoms of FSHD develop during the teenage years and progresses very slowly, taking up to thirty years in some people to develop into debilitating signs.

Symptoms of FSHD

  • Hearing loss

  • Inward curving of the spine.

  • Eyes remaining semi-open during sleep with accompanying visual disturbances

  • Severe pain in the limbs

  • Difficulty swallowing

Signs of FSHD

  • Exposure Keratitis

  • Crooked smile

  • Difficulty climbing stairs

  • Waddling Gait

  • Difficulty getting up from a chair

Limb-girdle muscular Dystrophy (LGMD)

Limbal Girdle Muscular Dystrophy or LGMD is an umbrella term encompassing several conditions presenting with weakness of the girdle muscles. LGMD results from mutations of the dysferlin gene on chromosome 2p13.3-p13.1 and affects males and females equally.

Symptoms of LGMD

  • Frequent falls

  • Difficulty running, climbing up stairs

  • Joint Stiffness

  • Mild to severe breathing problems

  • Changes in posture

Signs of LGMD

  • Scapular Winging or sticking out of the shoulder blades from the back

  • Scoliosis or curved spine

  • Weakening of the heart muscles

  • Overgrowth of the calf muscles

Distal Muscular Dystrophy

Distal Muscular Dystrophy is a weakness in the distal muscles, nine muscles farther from the center of the body, like the lower legs and forearm, and is caused by a mutation of the MATR3 genes.

Symptoms of Distal Muscular Dystrophy

  • Weakness in the lower arms or legs

  • Pharyngeal weakness

  • limbs weakness

  • Weakness in the hips

  • Frequent falls

Signs of Distal Muscular Symptoms

  • A gurgling or hoarse voice

  • Difficulty Swallowing

Myotonic Dystrophy

Myotonic Dystrophy is progressive muscle wasting and weakness caused by abnormalities in Chromosomes 3 and 19. It is divided into two types

Mutations in the DMPK Gene

cause type 1 DM

Mutations in the CNBP Gene cause type 2 MT

Symptoms of Myotonic Dystrophy

  • Muscle stiffness

  • Clouding of the eyes

  • Breathing difficulties

Signs of Myotonic Dystrophy

  • Slow and irregular heartbeat

  • Behaviour and personality problems

  • Slurred speech

Oculopharyngeal muscular Dystrophy

It involves the muscles of the eyes and pharyngeal

Symptoms of Oculopharyngeal Muscular Dystrophy

  • Swallowing Difficulties

  • Eyelid

  • Tongue Shrinking

Signs of Oculopharyngeal Muscular Dystrophy

  • Facial muscle weakness

  • Leg and arm weakness


This Unique genetic or Neuromuscular disease condition sometimes causes progressive muscle weakening and reduced muscle mass. It breakdowns muscles, so don’t hesitate to contact a neurologist before it worsens.

Updated on: 12-Apr-2023


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