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Spinal Muscular Atrophy (SMA)

Behaviour

    Limited mobility: Muscle weakness
    Poor head control
    Respiratory challenges:breathing
    Delayed developmental milestones
    Frustration and dependence
    Social isolation

Biomarkers

    Neurofilaments (NFs)
    Muscle function indicators
    Genetic basis: SMN1 gene mutations
    MicroRNAs (miRNAs)

Pathology

    Motor neuron loss
    Muscle atrophy
    Abnormal activity patterns
    Axon dysfunction

Myotonic Dystrophy (Steinert’s Disease)
Myotonic dystrophy type 1 (DM1)
Myotonic dystrophy type 2 (DM2)

Behaviour

    Mood disorders
    Social withdrawal
    Personality changes
    Cognitive impairment
    Apathy, anxiety, depression

Biomarkers

    DMPK gene
    Splicing Biomarkers
    MicroRNAs (miRNAs)
    Muscle Biopsy

Pathology

    Genetic mutations: DMPK and ZNF9/CNBP
    RNA clumps
    Splicing issues
    Insulin resistance
    Cognitive dysfunction

Emery-Dreifuss Muscular Dystrophy

Behaviour

    Frustration and anger
    Social withdrawal
    Anxiety and depression
    Adaptability and resilience

Biomarkers

    Muscle enzyme levels (CK)
    Mutation in the LMNA or EMD gene
    Electrocardiogram (ECG)
    Clinical presentation

Pathology

    Genetic mutations
    Nuclear envelope disruption
    Cardiac involvement
    Muscle fiber abnormalities
    Nuclear envelope protein mislocalization

Mitochondrial Myopathy

Behaviour

    Fatigue
    Muscle weakness
    Vision problems
    Hearing loss
    Seizures

Biomarkers

    Fibroblast growth factor 21 (FGF-21)
    Growth and differentiation factor 15 (GDF-15)
    Neurofilament light chain (NF-L)
    Lactate

Pathology

    Mitochondrial DNA defects
    Nuclear DNA defects
    Impaired oxidative phosphorylation
    Mitochondria abnormalities
    Deficit in adenosine triphosphate (ATP)

Duchenne Muscular Dystrophy (DMD)

Behaviour

    Attention Deficits
    Social Challenges
    Emotional Dysregulation
    Anxiety and Depression
    Obsessive-Compulsive Tendencies

Biomarkers

    Creatine kinase (CK)
    Titin fragments
    miRNAs
    Proteins and Metabolites

Pathology

    Muscle degeneration
    Cardiomyopathy
    Respiratory failure
    Seizures

Limb-Girdle Muscular Dystrophy (LGMD)

Behaviour

    Difficulty with mobility
    Muscle weakness
    Adaptive Strategies
    Social Withdrawal
    Positive Attitude and Resilience

Biomarkers

    Creatine Kinase (CK)
    Muscle specific miRNAs (myomiRs)
    Subtypes specific biomarkers
    Muscle Biopsy

Pathology

    Dystrophic changes
    End-stage pathology
    Protein defects: TTN gene
    Gene mutations
    Autosomal inheritance

Oculopharyngeal Muscular Dystrophy (OPMD)

Behaviour

    Drooping eyelids
    Difficulty swallowing
    Apathy, reduced motivation
    Weakness in limbs

Biomarkers

    PABPN1
    Quantitative muscle ultrasound (QMUS)
    Biofluid analysis
    Creatine kinase (CK)

Pathology

    Intranuclear inclusions
    Varied fiber size
    Rimmed vacuoles
    Mitochondrial abnormality

Myasthenia Gravis

Behaviour

    Fatigue
    Stress
    Depression and anxiety
    Psychological and behavioral interventions
    Weakness of neck or limb muscles

Biomarkers

    Acetylcholine receptor (AChR) antibodies
    Lipoprotein receptor-related protein 4 (LRP4) antibodies
    ST1A1
    Transforming growth factor alpha (TGF-α)
    CCL28

Pathology

    Antibodies that attack the neuromuscular junction.
    LRP4 antibodies
    MuSK antibodies
    AChR antibodies

Becker Muscular Dystrophy (BMD)

Behaviour

    Aggression or irritability
    Withdrawal or social isolation
    Anxiety and worry
    Depression
    Severity of muscle weakness

Biomarkers

    Muscle-specific microRNAs (myomiRs)
    Myostatin
    Dystrophin protein analysis
    Limitations of CK

Pathology

    Genetic basis
    Dystrophin protein defect
    Cardiomyopathy
    Muscle fiber damage

Facioscapulohumeral Muscular Dystrophy (FSHD)

Behaviour

    Facial expression difficulties
    Shoulder and arm weakness
    Speech impacts
    Difficulty smiling normally, whistling, drinking
    Frustration and anxiety

Biomarkers

    DUX4
    Muscle biopsy
    PAX7
    PBMCs

Pathology

    Deletion of D4Z4 repeats
    Chromatin relaxation
    Polyadenylation signal
    Muscle fiber necrosis
    Degeneration

Congenital Muscular Dystrophy (CMD)

Behaviour

    Motor delays
    Feeding difficulties
    Dependency on caregivers
    Anxiety, depression
    Cognitive and learning difficulties

Biomarkers

    Creatine Kinase (CK)
    Muscle Biopsy
    Titin
    Fibronectin
    miRNAs

Pathology

    Degeneration
    Regeneration
    Muscle fiber size
    Myophagocytosis
    Necrosis
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