Information for Clinicians

The muscular dystrophies and neuromuscular conditions are a group of rare conditions that gradually cause muscles to weaken and waste. They are usually inherited and are caused by changes (mutations) in the genes which are responsible for the structure and function of our muscles.  

Muscular dystrophies are progressive conditions. MDI currently supports around 60+ main and subtypes of MDs and NMC.

The main forms of muscular dystrophy are Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy (LGMD), and Congenital Muscular Dystrophy (CMD).

The main type of neuromuscular condition is Charcot–Marie–Tooth Disease (CMT).

Recognising Possible Signs' (Adults)

Progressive Muscle Weakness

  • Difficulty climbing stairs

  • Difficulty rising from a chair or the floor

  • Trouble lifting objects or raising arms above the head

Fatigable Weakness

  • Weakness that worsens with repeated activity and improves with rest

Frequent Falls or Gait Change

  • New unsteadiness, tripping, or frequent falls

Muscle Pain or Recurrent Rhabdomyolysis

  • Exercise intolerance, severe muscle pain after exertion, or dark urine

Muscle Wasting or Visible Muscle Thinning

Muscle Cramps or Fasciculations

  • Persistent twitching or cramping without clear cause

Bulbar Symptoms

  • Difficulty swallowing (Dysphagia)

  • Slurred or nasal speech (Dysarthria)

  • Difficulty chewing

Ocular Symptoms

  • Drooping Eyelids (Ptosis)

  • Double vision

Sensory Symptoms Suggesting Neuropathy

  • Numbness, tingling, or burning in the feet and/or hands (if intermittent and in the hands alone may be more likely carpal tunnel syndrome and hand clinic referral may be more appropriate)

Respiratory Symptoms Without Clear Pulmonary Cause

  • Unexplained breathlessness, orthopnoea, or sleep-related breathing problems

Family History

  • Relatives with muscle disease, neuropathy, early mobility problems, or unexplained cardiomyopathy

Persistently Elevated CK

'Diagnosis & Referral Pathway

  • Patients with suspected neuromuscular conditions should be referred through the standard pathway to their local neurology service for further assessment.

  • In children, referral to general paediatrics or paediatric neurology may be appropriate depending on local pathways.

  • Where Spinal Muscular Atrophy (SMA) and TTR Amyloidosis are suspected, referrals should be flagged as urgent, as disease-modifying treatments are now available.

Recognising Possible Signs' (Child)

In children, the signs and symptoms can be similar to adults, but they may   also present with:

In Infancy:

·        Delayed Motor or Other Milestones

·        Hypotonia

·        Weak Cough or Cry

·        Difficulty with Feeding or Swallow

·        Recurrent Lower Respiratory Tract Infections Due to Aspiration

·        Paucity of Movement in Early Infancy

In an Older Child:

·        Toe Walking

·        Walking with a Waddling Gait

·        Calf Hypertrophy

·        Scoliosis

Supporting Your Patients who has MD/NMC

  • Your patient may require appointments with different specialist:

  • Physiotherapy for maintaining muscles strength and movement

  • Occupational Therapist maybe required.

  • Nutritionist

  • Speech Therapy

  • Respiratory consultant

  • Cardiologist

  • Counselling and wellbeing support

  • May need help applying for a Primary Medical Certificate

Resources

Muscular Dystrophy’s and Neuromuscular Conditions

Spinal Muscular Atrophies
– (SMA Factsheets taken from Jennifer Trust Website)

Severe (Type I)
Intermediate (Type II)
Mild (Type III)
Adult spinal muscular atrophy

Other forms of SMA:

Spinal Muscular Atrophy - Lower Extremities Dominant (SMA-LED)

Hereditary Motor and Sensory Neuropathies

Charcot-Marie-Tooth (also known as Peroneal muscular atrophy)

Disorders of the Neuromuscular Junction

Myasthenia Gravis