Register as a client

When you register as a client, you gain access to essential support, information, and guidance to help enhance your quality of life.

If you’re dealing with a new diagnosis, searching for resources, or looking for a community that gets what you’re going through, we’re here to help.

Why register?

Congenital muscular dystrophies (CMDs) of all types, including:

  • Congenital muscular dystrophy and collagenopathies
    including Collagen VI and XII related dystrophies, Bethlem, Ullrich CMD
  • Congenital muscular dystrophy, dystroglycanopathies
    including all subtypes of Fukuyama, Muscle-eye-brain disease, Walker-Warburg syndromes, Congenital muscular dystrophy with hypoglycosylation of dystroglycan, including related to B4GAT1, CRPPA, DPM2, DAG1, FKTN, FKRP, GMPPB, LARGE1, POMT1, POMT2, POMGNT1, POMGNT2
  • Congenital muscular dystrophy, laminopathies (CMD related to LMNA)
  • Congenital muscular dystrophy, merosinopathies (CMD related to LAMA2
  • SELENON/SEPN1 related CMD (Rigid spine syndrome)
  • Other CMDs including but not limited to ACTA1, CHKB, DNM2, ITGA7, RYR1, SYNE1, TCAP related CMD and CMD without genetic diagnosis

 

Progressive muscular dystrophies, including:

  • Becker muscular dystrophy (BMD)
  • Duchenne muscular dystrophy (DMD)
  • Dystrophinopathies, other
    including X-linked Cardiomyopathy, Dilated cardiomyopathy 3B (Manifesting Female)
  • Emery Dreifuss muscular dystrophy and all subtypes of EDMD
  • Facioscapulohumeral muscular dystrophy
    FSHD1 related to D4Z4, FSHD2 related to SMCHD1
  • Limb girdle muscular dystrophy
    All subtypes including but not limited to ANO5, CAPN3, DNAJB6, DYS (Miyoshi myopathy), FKR, GMPPB, SGCA/D/G, TTN-related LGMD
  • Myotonic dystrophy
    All subtypes including DM1 Steinert disease (congenital, childhood, juvenile and adult onset DM1), DM2 proximal myotonic myopathy, Ricker syndrome
  • Oculopharyngeal muscular dystrophy (OPMD)

Congenital myopathies of all types, including:

  • Cap myopathies
  • Central core disease
  • Centronuclear myopathies
    including recessive, dominant, and X-linked (Myotubular Myopathy) subtypes
  • Congenital fiber type disproportion myopathy
  • Minicore myopathy or Multiminicore myopathy (RYR1)
  • Nemaline myopathy
  • Tubular aggregate myopathies

 

Distal myopathies of all types, including:

  • Udd myopathy (also known as tibial myopathy)
  • Nonaka myopathy (also known as inclusion body myopathy (inherited) or GNE myopathy)
  • Laing distal myopathy (also known as distal myopathy type 1)
  • Welander myopathy

 

Immune-mediated myopathies/Myositis

  • Dermatomyositis
  • Immune-mediated necrotizing myositis
  • Sporadic inclusion body myositis (sIBM)
  • Polymyositis
  • Vasculitis related myopathies

 

Metabolic myopathies

  • Carnitine palmitoyl transferase II deficiency (CP2 related)
  • Glycogen storage disease type II (Pompe disease or acid maltase deficiency)
  • Glycogen storage disease III (Forbe disease or Glycogen Debrancher Deficiency)
  • Glycogen storage disease IV (Andersen disease or Glycogen branching enzyme deficiency)
  • Glycogen storage disease V (McArdle disease or myophosphorylase deficiency)
  • Glycogen storage disease VII (Phosphofructokinase deficiency or Tarui disease)
  • Glycogen storage disease 1Xd (Glycogen storage disease due to muscle phosphorylase kinase deficiency)
  • Glycogen storage disease XII (Aldolase deficiency)
  • Glycogen storage disease XIV (Congenital disorder of glycosylation type 1T; or Phosphoglucomutase 1 deficiency)
  • Glycogen storage disease of heart, lethal congenital
  • Myoadenylate deaminase deficiency

 

Mitochondrial disorders with primary myopathy

Muscular ion channel disorders

  • Brody myopathy
  • Genetic periodic paralysis, including:
  • Andersen-Tawil syndrome
  • Hyperkalemic periodic paralysis (sodium, potassium, calcium channels related)
  • Hypokalemic periodic paralysis, also known as Gamstorp disease (sodium, potassium, calcium channels related)
  • Myotonia congenita Thompsen and Becker disease
  • Neuromyotonia Isaac syndrome
  • Schwartz-Jampel Syndrome Chondrodystrophic Myotonia
  • Paramyotonia congenita
  • Potassium aggravated myotonia

 

Other myopathies

  • Myofibrillar myopathies, including desminopathy
  • Reducing body myopathy
  • Hereditary distal arthrogryposis multiplex congenita
  • Rippling muscle disease
  • Vacuolar aggregate myopathy

Genetic disorders of the neuromuscular junction

  • Congenital myasthenic syndromes
    All subtypes including slow and fast channel syndromes, acetylcholine receptor deficiency

Immune-mediated disorders of the neuromuscular junction

Genetic peripheral neuropathies

  • Amyloid peripheral neuropathy (AL and AA amyloidosis)
  • Andermann syndrome/Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6 related), also known as Charlevoix disease
  • Ataxia with vitamin E deficiency (Friedreich-like ataxia)
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
  • Charcot-Marie-Tooth neuropathy/Hereditary Motor and sensory Neuropathy
    All subtypes of CMT including but not limited to Hereditary neuropathy with liability to pressure palsies (HNPP), Congenital hypomyelinating neuropathy (HMSN), axonal & demyelinating HMSN and disorders historical known as peroneal neuropathy, Dejerine-Sottas disease
  • Friedreich ataxia
  • Giant axonal neuropathy (GAN)
  • Hereditary neuralgic amyotrophy (HNA)
    SEPT9 related
  • Hereditary sensory and autonomic neuropathy (HSAN)
    all subtypes HSAN I-VIII including congenital insensitivity to pain (CIP), Familial dysautonomia (Riley-Day syndrome)
  • Tangier disease (Alphalipoproteinem)

Immune-mediated peripheral neuropathies

  • Antibody mediated paraneoplastic neuropathy
  • Critical illness polyneuropathy and/or myopathy
  • Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)
  • Guillain-Barré syndrome
    including acute inflammatory demyelinating polyradiculoneuropathy (AIDP), Multifocal motor neuropathy (MMN) with conduction block
  • Neuropathy due to monoclonal gammopathy
    Axonal polyneuropathy and polyradiculonearopathy polyradiculoneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
  • Parsonage-Turner syndrome
    Brachial neuritis, Neuralgic amyotrophy
  • Mitochondrial disorders with primary peripheral neuropathy

Genetic lower motor neuron disorders:

  • Distal hereditary motor neuropathy/spinal muscular atrophy, dominant (dHMN/dSMA)
    including dHMN1,2,5,7
  • Distal hereditary motor neuropathy/spinal muscular atrophy, recessive (dHMN/dSMA)
    including dSMA1 (SMARD1/ dHMN6,) dSMA2-5
  • Distal hereditary motor neuropathy/spinal muscular atrophy, X-linked
    including SMARD2, SMAX2 (X-linked distal arthrogryposis multiplex congenita), SMAX3
  • Proximal spinal muscular atrophy, dominant
    including SMALED (BICD2, DYNC1H1), SMAFK
  • Proximal spinal muscular atrophy, recessive all subtypes related to SMN1, SMA5q
  • Spinobulbar muscular atrophy, X-linked
    SBMA, Kennedy disease, SMAX1

How to register

Registering is easy and free! Simply complete the PDF registration form below.

Once registered, you’ll receive a call from our team to explore your needs and learn how we can help you.

Need help?

Our locally-based Service Specialists can answer your questions and help you complete the registration form.
A smiling woman in a blue blazer talks on a cellphone while working on a laptop at a desk in a bright room with framed pictures on the wall.

Need help?

Our locally-based Service Specialists can answer your questions and help you complete the registration form.

*Health conditions that do not fall under the umbrella of disorders we support include acquired traumatic conditions due to birth related injury and/or motor vehicle or other accidents (i.e. brachial plexopathy, spinal cord injuries); transient, toxic diseases (i.e., Lyme disease, Rhabdomyolysis, steroid induced conditions); acquired conditions secondary to non-neuromuscular disorder or its treatment (i.e. diabetic polyneuropathy, peripheral due to chemotherapy/cancer, sarcopenia); brain/spine (“central nervous system”) predominant diseases (i.e., Multiple sclerosis, Huntington, Leukodystrophy, Ataxias with primary CNS involvement; and, upper motor neuron disorders (ie Amyotrophic/Primary lateral sclerosis).